Varaico: Literature-Extracted Genetic Variants

Gene:MTCH1
Variant:p.S61W

MTCH1

22 papers

RefSeq Summary

This gene encodes a member of the mitochondrial carrier family. The encoded protein is localized to the mitochondrion inner membrane and induces apoptosis independent of the proapoptotic proteins Bax ...

Pfam Domains

Mito_carraa 192–283UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

mitochondrial carrier 1

HGNC Alias Symbols

CGI-64; SLC25A49

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001271641.2
p.S61W
c.182C>G
Surrounding Variants
1 paper
NM_001271641.2
p.H47Y
c.139C>T
1 paper
NM_001271641.2
p.G25V
c.74G>T
1 paper
NM_001271641.2
p.P98A
c.292C>G
1 paper
NM_001271641.2
p.G15C
c.43G>T
1 paper
NM_001271641.2
p.G15R
c.43G>C
1 paper
NM_001271641.2
p.P10delFs
c.30delG
1 paper
NM_001271641.2
p.G109_H110delFs
c.327_330del4
1 paper
NM_001271641.2
p.A136Splc
c.407-39A>G
1 paper
NM_001271641.2
p.F149L
c.445T>C
1 paper
NM_001271641.2
p.F149L
c.447C>G
1 paper
NM_001271641.2
p.F149L
c.447C>A
1 paper
NM_001271641.2
p.T165S
c.493A>T
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