Varaico: Literature-Extracted Genetic Variants

Gene:TMC1
Variant:p.K628_S630del3

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.K628_S630del3
c.1882_1889del9
Surrounding Variants
1 paper
NM_138691.3
p.S630_S632del3
c.1888_1895del9
1 paper
NM_138691.3
p.N620S
c.1859A>G
1 paper
NM_138691.3
p.N620I
c.1859A>T
1 paper
NM_138691.3
p.L640P
c.1919T>C
16 papers
NM_138691.3
p.S647P
c.1939T>C
2 papers
NM_138691.3
p.S647F
c.1940C>T
2 papers
NM_138691.3
p.L605P
c.1814T>C
1 paper
NM_138691.3
p.P650L
c.1949C>T
7 papers
NM_138691.3
p.R604G
c.1810C>G
21 papers
NM_138691.3
p.R604*
c.1810C>T
1 paper
NM_138691.3
p.L603H
c.1808T>A
1 paper
NM_138691.3
p.V651delFs
c.1953delC
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."