TUFT1

tuftelin 1

Summary

Tuftelin is an acidic protein that is thought to play a role in dental enamel mineralization and is implicated in caries susceptibility. It is also thought to be involved with adaptation to hypoxia, mesenchymal stem cell function, and neurotrophin nerve growth factor mediated neuronal differentiation. [provided by RefSeq, Aug 2014]

Known Variants28 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs932956802	1:151,512,903	G/A	—	pathogenic
rs7526319	1:151,524,558	T/C	intron variant	—
rs12117155	1:151,531,337	T/C	downstream gene variant	—
rs78802584	1:151,534,321	G/A	—	benign
rs2526074496	1:151,534,585	A/G	—	uncertain significance
rs1432524255	1:151,536,384	A/G	—	uncertain significance
rs374164451	1:151,536,462	A/C	—	uncertain significance
rs767961343	1:151,536,463	G/C	—	uncertain significance
rs150612239	1:151,537,025	C/T	—	uncertain significance
rs1666003407	1:151,537,035	T/C	—	uncertain significance
rs201795159	1:151,537,080	A/G	—	uncertain significance
rs3790506	1:151,538,366	G/A	regulatory region variant	—
rs138156504	1:151,538,661	G/A	—	uncertain significance
rs1666073103	1:151,538,690	A/G	—	uncertain significance
rs778923819	1:151,538,694	G/A	—	uncertain significance
rs1029817973	1:151,542,232	T/C	—	likely benign
rs1450000790	1:151,546,810	A/G	—	uncertain significance
rs147839657	1:151,546,816	T/C	—	likely benign
rs2526130939	1:151,546,825	A/G	—	uncertain significance
rs138166845	1:151,546,857	T/G	—	uncertain significance
rs373535548	1:151,547,445	G/A	—	uncertain significance
rs750041079	1:151,551,207	C/G	—	uncertain significance
rs1412910130	1:151,551,252	G/T	—	uncertain significance
rs1368601373	1:151,551,277	G/A	—	uncertain significance
rs769977326	1:151,551,286	G/A	—	uncertain significance
rs754728864	1:151,552,161	G/A	—	likely benign
rs750454205	1:151,553,494	G/T	—	uncertain significance
rs140412170	1:151,554,137	C/T	—	uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.