Varaico: Literature-Extracted Genetic Variants

Gene:TMC1
Variant:p.N50K

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.N50K
c.150T>A
Surrounding Variants
2 papers
NM_138691.3
p.N50K
c.150T>G
15 papers
NM_138691.3
p.N50delFs
c.150delT
1 paper
NM_138691.3
p.N50fs
c.148_149fs
1 paper
NM_138691.3
p.D52H
c.154G>C
1 paper
NM_138691.3
p.D52G
c.155A>G
1 paper
NM_138691.3
p.V48I
c.142G>A
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.P54S
c.160C>T
2 papers
NM_138691.3
p.D47Y
c.139G>T
1 paper
NM_138691.3
p.R44R
c.132G>A
1 paper
NM_138691.3
p.R44Q
c.131G>A
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