Varaico: Literature-Extracted Genetic Variants

Gene:MTCH1
Variant:p.G109_H110delFs

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.G109_H110delFs
c.327_330del4
Surrounding Variants
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
1 paper
NM_001271641.2
p.R166Q
c.497G>A
1 paper
NM_001271641.2
p.K170N
c.510G>T
1 paper
NM_001271641.2
p.K170N
c.510G>C
1 paper
NM_001271641.2
p.P175S
c.523C>T
1 paper
NM_001271641.2
p.P214R
c.641C>G
1 paper
NM_001271641.2
p.P98A
c.292C>G
1 paper
NM_001271641.2
p.S61W
c.182C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."