Varaico: Literature-Extracted Genetic Variants

Gene:TMC1
Variant:p.I655L

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
2 papers
NM_138691.3
p.I655L
c.1963A>C
Surrounding Variants
1 paper
NM_138691.3
p.I655_P660del6
c.1963_1979del18
1 paper
NM_138691.3
p.I655N
c.1964T>A
17 papers
NM_138691.3
p.M654V
c.1960A>G
2 papers
NM_138691.3
p.Y653*
c.1959C>A
3 papers
NM_138691.3
p.Y653*
c.1959C>G
1 paper
NM_138691.3
p.L652fs
c.1954_1955fs
1 paper
NM_138691.3
p.V651delFs
c.1953delC
1 paper
NM_138691.3
p.P650L
c.1949C>T
8 papers
NM_138691.3
p.P660L
c.1979C>T
1 paper
NM_138691.3
p.F662_D663del1
c.1986_1988delTGA
2 papers
NM_138691.3
p.S647F
c.1940C>T
1 paper
NM_138691.3
p.C664_F667delFs
c.1991_2000del10
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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."