Varaico: Literature-Extracted Genetic Variants

Gene:TMC1
Variant:p.K468_I469Splc

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
6 papers
NM_138691.3
p.K468_I469Splc
c.1404+1G>T
Surrounding Variants
1 paper
NM_138691.3
p.K468_I469Splc
c.1404+1G>C
1 paper
NM_138691.3
p.K468_I469insFs
c.1404_1405insG
5 papers
NM_138691.3
p.N466del1
c.1396_1398delAAC
1 paper
NM_138691.3
p.K468_I469Splc
c.1404+32A>G
2 papers
NM_138691.3
p.Y455H
c.1363T>C
1 paper
NM_138691.3
p.N453K
c.1359T>A
1 paper
NM_138691.3
p.N453K
c.1359T>G
1 paper
NM_138691.3
p.L451F
c.1353A>C
1 paper
NM_138691.3
p.L451F
c.1353A>T
1 paper
NM_138691.3
p.L450F
c.1348C>T
24 papers
NM_138691.3
p.R445H
c.1334G>A
21 papers
NM_138691.3
p.R445C
c.1333C>T
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