Varaico: Literature-Extracted Genetic Variants

Gene:TMC1
Variant:p.N583S

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.N583S
c.1748A>G
Surrounding Variants
1 paper
NM_138691.3
p.F582L
c.1746C>A
1 paper
NM_138691.3
p.F582L
c.1746C>G
1 paper
NM_138691.3
p.Q584*
c.1750C>T
1 paper
NM_138691.3
p.F582L
c.1744T>C
1 paper
NM_138691.3
p.G585insFs
c.1753_1754insA
1 paper
NM_138691.3
p.M586insFs
c.1757_1758insG
1 paper
NM_138691.3
p.A579T
c.1735G>A
18 papers
NM_138691.3
p.W588*
c.1763G>A
18 papers
NM_138691.3
p.W588*
c.1764G>A
18 papers
NM_138691.3
p.W588Splc
c.1763+3A>G
4 papers
NM_138691.3
p.N576K
c.1728C>A
4 papers
NM_138691.3
p.N576K
c.1728C>G
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