Varaico: Literature-Extracted Genetic Variants

Gene:TMC1
Variant:p.D60V

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.D60V
c.179A>T
Surrounding Variants
2 papers
NM_138691.3
p.E61K
c.181G>A
1 paper
NM_138691.3
p.E61D
c.183A>C
1 paper
NM_138691.3
p.E61D
c.183A>T
2 papers
NM_138691.3
p.E59_R64delFs
c.176_191del16
1 paper
NM_138691.3
p.E57D
c.171A>T
1 paper
NM_138691.3
p.E57G
c.170A>G
1 paper
NM_138691.3
p.T63K
c.188C>A
1 paper
NM_138691.3
p.R64delFs
c.191delG
2 papers
NM_138691.3
p.A66T
c.196G>A
1 paper
NM_138691.3
p.P54S
c.160C>T
1 paper
NM_138691.3
p.E68K
c.202G>A
1 paper
NM_138691.3
p.D52G
c.155A>G
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