Varaico: Literature-Extracted Genetic Variants

Gene:TMC1
Variant:p.M519V

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
14 papers
NM_138691.3
p.M519V
c.1555A>G
Surrounding Variants
1 paper
NM_138691.3
p.W516*
c.1548G>A
1 paper
NM_138691.3
p.W516*
c.1547G>A
1 paper
NM_138691.3
p.C515F
c.1544G>T
7 papers
NM_138691.3
p.Q522_E523Splc
c.1566+1G>A
19 papers
NM_138691.3
p.C515R
c.1543T>C
17 papers
NM_138691.3
p.P514L
c.1541C>T
1 paper
NM_138691.3
p.P514T
c.1540C>A
2 papers
NM_138691.3
p.G513R
c.1537G>A
2 papers
NM_138691.3
p.G513R
c.1537G>C
27 papers
NM_138691.3
p.R512*
c.1534C>T
2 papers
NM_138691.3
p.P511H
c.1532C>A
1 paper
NM_138691.3
p.P511L
c.1532C>T
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