Varaico: Literature-Extracted Genetic Variants

Gene:TMC1
Variant:p.P660L

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
8 papers
NM_138691.3
p.P660L
c.1979C>T
Surrounding Variants
1 paper
NM_138691.3
p.F662_D663del1
c.1986_1988delTGA
1 paper
NM_138691.3
p.C664_F667delFs
c.1991_2000del10
1 paper
NM_138691.3
p.C664S
c.1990T>A
1 paper
NM_138691.3
p.C664S
c.1991G>C
1 paper
NM_138691.3
p.C664W
c.1992T>G
1 paper
NM_138691.3
p.I655N
c.1964T>A
2 papers
NM_138691.3
p.I655L
c.1963A>C
1 paper
NM_138691.3
p.I655_P660del6
c.1963_1979del18
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.F667_S668ins4
c.1999_2003ins12
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