Varaico: Literature-Extracted Genetic Variants

Gene:TMC1
Variant:p.F667_S668ins4

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.F667_S668ins4
c.1999_2003ins12
Surrounding Variants
1 paper
NM_138691.3
p.F667S
c.2000T>C
16 papers
NM_138691.3
p.S668R
c.2002A>C
3 papers
NM_138691.3
p.S668G
c.2002A>G
16 papers
NM_138691.3
p.S668R
c.2004T>A
16 papers
NM_138691.3
p.S668R
c.2004T>G
1 paper
NM_138691.3
p.S668Splc
c.2003+2T>C
1 paper
NM_138691.3
p.C664W
c.1992T>G
1 paper
NM_138691.3
p.C664S
c.1991G>C
1 paper
NM_138691.3
p.C664S
c.1990T>A
1 paper
NM_138691.3
p.C664_F667delFs
c.1991_2000del10
1 paper
NM_138691.3
p.F662_D663del1
c.1986_1988delTGA
8 papers
NM_138691.3
p.P660L
c.1979C>T
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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."