Varaico: Literature-Extracted Genetic Variants

Gene:TMC1
Variant:p.F593L

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
1 paper
NM_138691.3
p.F593L
c.1779T>A
Surrounding Variants
1 paper
NM_138691.3
p.F593L
c.1779T>G
1 paper
NM_138691.3
p.A594delFs
c.1780delG
1 paper
NM_138691.3
p.F593L
c.1777T>C
8 papers
NM_138691.3
p.S596R
c.1786A>C
8 papers
NM_138691.3
p.S596R
c.1788C>A
8 papers
NM_138691.3
p.S596R
c.1788C>G
1 paper
NM_138691.3
p.M589fs
c.1765_1766fs
2 papers
NM_138691.3
p.M589V
c.1765A>G
13 papers
NM_138691.3
p.W588*
c.1764G>A
1 paper
NM_138691.3
p.W588Splc
c.1764-4C>A
1 paper
NM_138691.3
p.L603H
c.1808T>A
7 papers
NM_138691.3
p.R604G
c.1810C>G
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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."