Varaico: Literature-Extracted Genetic Variants

Gene:TMC1
Variant:p.G417R

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
20 papers
NM_138691.3
p.G417R
c.1249G>A
Surrounding Variants
20 papers
NM_138691.3
p.G417R
c.1249G>C
6 papers
NM_138691.3
p.G417E
c.1250G>A
8 papers
NM_138691.3
p.L416R
c.1247T>G
34 papers
NM_138691.3
p.M418K
c.1253T>A
1 paper
NM_138691.3
p.M418T
c.1253T>C
3 papers
NM_138691.3
p.F419S
c.1256T>C
3 papers
NM_138691.3
p.C420Y
c.1259G>A
1 paper
NM_138691.3
p.M413T
c.1238T>C
1 paper
NM_138691.3
p.P421_D425del5
c.1261_1274del15
13 papers
NM_138691.3
p.V412D
c.1235T>A
1 paper
NM_138691.3
p.V412delFs
c.1235delT
5 papers
NM_138691.3
p.T422K
c.1265C>A
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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."