Varaico: Literature-Extracted Genetic Variants

Gene:TMC1
Variant:p.D572H

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
26 papers
NM_138691.3
p.D572H
c.1714G>C
Surrounding Variants
53 papers
NM_138691.3
p.D572N
c.1714G>A
1 paper
NM_138691.3
p.D572A
c.1715A>C
2 papers
NM_138691.3
p.F571F
c.1713C>T
1 paper
NM_138691.3
p.D572E
c.1716C>A
1 paper
NM_138691.3
p.D572E
c.1716C>G
5 papers
NM_138691.3
p.I573N
c.1718T>A
1 paper
NM_138691.3
p.T569A
c.1705A>G
3 papers
NM_138691.3
p.Y568C
c.1703A>G
4 papers
NM_138691.3
p.N576K
c.1728C>A
4 papers
NM_138691.3
p.N576K
c.1728C>G
2 papers
NM_138691.3
p.Y565_P566Splc
c.1696-1G>A
1 paper
NM_138691.3
p.A579T
c.1735G>A
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