DHX38

DEAH-box helicase 38

Summary

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a member of the DEAD/H box family of splicing factors. This protein resembles yeast Prp16 more closely than other DEAD/H family members. It is an ATPase and essential for the catalytic step II in pre-mRNA splicing process. [provided by RefSeq, Jul 2008]

Known Variants725 total

rsidPosition (GRCh37)AllelesClassClinVar
rs138945488616:72,130,062G/A—likely benign
rs214412851616:72,130,066A/T—uncertain significance
rs98577177916:72,130,083G/A—likely benign
rs75664970716:72,130,088A/G—uncertain significance
rs125359322116:72,130,090C/T—uncertain significance
rs74970300716:72,130,095G/A—likely benign
rs3579481916:72,130,103C/G—benign
rs14582933716:72,130,111G/A—uncertain significance
rs214412881716:72,130,120G/A—uncertain significance
rs250707777216:72,130,124G/C—uncertain significance
rs1155476416:72,130,125C/T—benign
rs3442550616:72,130,140G/A—benign
rs76429318516:72,130,145A/G—uncertain significance
rs250707788216:72,130,149T/C—likely benign
rs86789712016:72,130,151C/T—uncertain significance
rs75166980016:72,130,152G/A—likely benign
rs204201643816:72,130,154C/T—uncertain significance
rs76216787716:72,130,158C/T—likely benign
rs126657289416:72,130,179T/C—likely benign
rs75437004116:72,130,185T/C—likely benign
rs37277666316:72,130,189C/T—uncertain significance
rs74762276516:72,130,190G/A—uncertain significance
rs92437842616:72,130,191C/A—likely benign
rs77177795616:72,130,197A/G—likely benign
rs214412915416:72,130,202T/G—uncertain significance
rs105036116:72,130,203C/G—benign
rs77746701816:72,130,204G/A—uncertain significance
rs250707815316:72,130,209G/A—likely benign
rs19211841016:72,130,221T/G—likely benign
rs75959557316:72,130,231C/T—uncertain significance
rs15059298316:72,130,232G/A—uncertain significance
rs214412931516:72,130,236A/G—likely benign
rs57427804916:72,130,238A/C—uncertain significance
rs14736515816:72,130,254C/T—likely benign
rs18451134916:72,130,255G/A—uncertain significance
rs204201826816:72,130,259G/C—uncertain significance
rs76678437216:72,130,260G/A—likely benign
rs120111084916:72,130,269G/C—uncertain significance
rs250707868916:72,130,273A/C—uncertain significance
rs156760249616:72,130,275G/T—uncertain significance
rs124366531516:72,130,280A/G—uncertain significance
rs75551584116:72,130,300T/G—uncertain significance
rs95372823316:72,130,302G/C—uncertain significance
rs214412964916:72,130,317T/C—likely benign
rs140890862116:72,130,337A/G—uncertain significance
rs77708061416:72,130,341G/C—uncertain significance
rs74669815816:72,130,342G/A—uncertain significance
rs37072523116:72,130,344C/T—likely benign
rs78117495216:72,130,345G/A—uncertain significance
rs20219846516:72,130,351C/A—uncertain significance
rs76292189016:72,130,370G/A—uncertain significance
rs124933652116:72,130,371G/C—likely benign
rs214412986716:72,130,376A/T—uncertain significance
rs37234598816:72,130,388C/T—likely benign
rs250708044016:72,130,721A/G—uncertain significance
rs140440263316:72,130,728C/T—uncertain significance
rs204202656516:72,130,729G/A—uncertain significance
rs76562058416:72,130,732C/A—uncertain significance
rs19298350416:72,130,735C/T—uncertain significance
rs75114079516:72,130,736T/G—likely benign
rs37038885916:72,130,737C/T—uncertain significance
rs37518158116:72,130,738G/A—uncertain significance
rs37242831916:72,130,757T/C—likely benign
rs74900095116:72,130,759C/T—uncertain significance
rs14741319316:72,130,760G/A—likely benign
rs74805950016:72,130,764G/T—uncertain significance
rs13954711616:72,130,772C/T—likely benign
rs214413112416:72,130,784G/A—uncertain significance
rs214413116216:72,130,790C/T—likely benign
rs77472818416:72,130,794C/T—uncertain significance
rs76234413916:72,130,795G/A—uncertain significance
rs250708083716:72,130,798A/G—uncertain significance
rs204202815816:72,130,799G/C—uncertain significance
rs204202826216:72,130,804A/G—uncertain significance
rs20050131316:72,130,806C/T—likely benign
rs54940812116:72,130,812C/T—uncertain significance
rs75372253316:72,130,813G/A—uncertain significance
rs105036216:72,130,815C/T—uncertain significance
rs77870249616:72,130,816G/A—uncertain significance
rs14509079516:72,130,820A/T—likely benign
rs14385192916:72,130,826T/G—likely benign
rs138778986016:72,130,833G/A—uncertain significance
rs97268153716:72,130,837C/T—uncertain significance
rs14861628016:72,130,838G/A—likely benign
rs14244423416:72,130,847A/T—uncertain significance
rs14687257116:72,130,862G/A—likely benign
rs214413157116:72,130,872T/C—uncertain significance
rs36870712716:72,130,873C/T—uncertain significance
rs77267152116:72,130,874G/A—likely benign
rs77292114616:72,130,875C/T—uncertain significance
rs118307148316:72,130,878G/A—uncertain significance
rs77637607516:72,130,880T/A—uncertain significance
rs76592725816:72,130,881C/T—uncertain significance
rs20164090216:72,130,884G/T—uncertain significance
rs76496378216:72,130,888A/G—uncertain significance
rs147379980816:72,130,891A/G—uncertain significance
rs75251448716:72,130,893C/T—uncertain significance
rs214413176616:72,130,900G/A—uncertain significance
rs143951550516:72,130,914C/G—uncertain significance
rs14717087116:72,130,919C/T—benign

Showing 100 of 725 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.