Varaico: Literature-Extracted Genetic Variants

Gene:TMC1
Variant:p.E408K

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.E408K
c.1222G>A
Surrounding Variants
1 paper
NM_138691.3
p.N407fs
c.1219_1220fs
2 papers
NM_138691.3
p.E408_M409Splc
c.1224+1G>T
3 papers
NM_138691.3
p.E408_M409Splc
c.1224+2T>C
1 paper
NM_138691.3
p.E405K
c.1213G>A
3 papers
NM_138691.3
p.W404R
c.1210T>A
4 papers
NM_138691.3
p.W404R
c.1210T>C
2 papers
NM_138691.3
p.W403*
c.1209G>A
11 papers
NM_138691.3
p.W403C
c.1209G>C
9 papers
NM_138691.3
p.W403C
c.1209G>T
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.G402R
c.1204G>A
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