Varaico: Literature-Extracted Genetic Variants

Gene:TMC1
Variant:p.R74delFs

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.R74delFs
c.220delA
Surrounding Variants
1 paper
NM_138691.3
p.L75L
c.223C>T
1 paper
NM_138691.3
p.R71fs
c.211_212fs
1 paper
NM_138691.3
p.R77fs
c.229_230fs
1 paper
NM_138691.3
p.E70delFs
c.210delG
1 paper
NM_138691.3
p.R71_R73delFs
c.211_218del8
1 paper
NM_138691.3
p.G78A
c.233G>C
1 paper
NM_138691.3
p.E68K
c.202G>A
21 papers
NM_138691.3
p.A79Splc
c.236+1G>A
8 papers
NM_138691.3
p.A79Splc
c.236+1G>C
1 paper
NM_138691.3
p.A79Splc
c.236+5G>A
2 papers
NM_138691.3
p.A66T
c.196G>A
1 paper
NM_138691.3
p.R64delFs
c.191delG
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