Varaico: Literature-Extracted Genetic Variants

Gene:TMC1
Variant:p.Y433S

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
3 papers
NM_138691.3
p.Y433S
c.1298A>C
Surrounding Variants
1 paper
NM_138691.3
p.Y433F
c.1298A>T
1 paper
NM_138691.3
p.P435L
c.1304C>T
1 paper
NM_138691.3
p.I437V
c.1309A>G
7 papers
NM_138691.3
p.A438T
c.1312G>A
5 papers
NM_138691.3
p.A428D
c.1283C>A
1 paper
NM_138691.3
p.K440fs
c.1318_1319fs
1 paper
NM_138691.3
p.K440_W441delFs
c.1319_1323del5
1 paper
NM_138691.3
p.L426S
c.1277T>C
1 paper
NM_138691.3
p.F424S
c.1271T>C
1 paper
NM_138691.3
p.L442L
c.1326A>G
1 paper
NM_138691.3
p.L443M
c.1327C>A
12 papers
NM_138691.3
p.G444R
c.1330G>A
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