Varaico: Literature-Extracted Genetic Variants

Gene:TMC1
Variant:p.D397N

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.D397N
c.1189G>A
Surrounding Variants
1 paper
NM_138691.3
p.P398_D399insC
c.1192_1196ins3
1 paper
NM_138691.3
p.A394T
c.1180G>A
1 paper
NM_138691.3
p.G402R
c.1204G>A
1 paper
NM_138691.3
p.G402R
c.1204G>C
8 papers
NM_138691.3
p.Q391*
c.1171C>T
1 paper
NM_138691.3
p.S390S
c.1170C>A
1 paper
NM_138691.3
p.W403*
c.1208G>A
1 paper
NM_138691.3
p.W403S
c.1208G>C
1 paper
NM_138691.3
p.S390C
c.1169C>G
1 paper
NM_138691.3
p.S390F
c.1169C>T
2 papers
NM_138691.3
p.W403*
c.1209G>A
11 papers
NM_138691.3
p.W403C
c.1209G>C
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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."