Varaico: Literature-Extracted Genetic Variants

Gene:TMC1
Variant:p.R44Q

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.R44Q
c.131G>A
Surrounding Variants
1 paper
NM_138691.3
p.R44R
c.132G>A
1 paper
NM_138691.3
p.R42insFs
c.125_126ins4
2 papers
NM_138691.3
p.D47Y
c.139G>T
2 papers
NM_138691.3
p.R42_D52del11
c.124_155del33
1 paper
NM_138691.3
p.D47E
c.141T>A
1 paper
NM_138691.3
p.D47E
c.141T>G
1 paper
NM_138691.3
p.V48I
c.142G>A
1 paper
NM_138691.3
p.P40Q
c.119C>A
1 paper
NM_138691.3
p.K41delFs
c.122delA
1 paper
NM_138691.3
p.N50fs
c.148_149fs
15 papers
NM_138691.3
p.N50delFs
c.150delT
2 papers
NM_138691.3
p.N50K
c.150T>A
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