Varaico: Literature-Extracted Genetic Variants

Gene:TMC1
Variant:p.A428D

TMC1

406 papers

RefSeq Summary

This gene is considered a member of a gene family predicted to encode transmembrane proteins. The specific function of this gene is unknown; however, it is known to be required for normal function of ...

Pfam Domains

TMCaa 515–630UCSCTMC domain

Gene Aliases

HGNC Name

transmembrane channel like 1

HGNC Previous Symbols

DFNA36; DFNB7; DFNB11

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_138691.3
p.A428D
c.1283C>A
Surrounding Variants
1 paper
NM_138691.3
p.L426S
c.1277T>C
1 paper
NM_138691.3
p.F424S
c.1271T>C
3 papers
NM_138691.3
p.Y433S
c.1298A>C
1 paper
NM_138691.3
p.Y433F
c.1298A>T
5 papers
NM_138691.3
p.T422K
c.1265C>A
1 paper
NM_138691.3
p.P435L
c.1304C>T
1 paper
NM_138691.3
p.P421_D425del5
c.1261_1274del15
3 papers
NM_138691.3
p.C420Y
c.1259G>A
1 paper
NM_138691.3
p.I437V
c.1309A>G
3 papers
NM_138691.3
p.F419S
c.1256T>C
7 papers
NM_138691.3
p.A438T
c.1312G>A
34 papers
NM_138691.3
p.M418K
c.1253T>A
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