Varaico: Literature-Extracted Genetic Variants

Gene:TIMM44
Variant:p.D376_L377Splc

TIMM44

60 papers

RefSeq Summary

This gene encodes a peripheral membrane protein associated with the mitochondrial inner membrane translocase, which functions in the import of proteins across the mitochondrial inner membrane and into...

Pfam Domains

Tim44aa 296–445UCSCTim44-like domain

Gene Aliases

HGNC Name

translocase of inner mitochondrial membrane 44

HGNC Alias Symbol

TIM44

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006351.4
p.D376_L377Splc
c.1128+3A>G
Surrounding Variants
1 paper
NM_006351.4
p.D371H
c.1111G>C
1 paper
NM_006351.4
p.P387S
c.1159C>T
1 paper
NM_006351.4
p.E407K
c.1219G>A
1 paper
NM_006351.4
p.V409fs
c.1225_1226fs
1 paper
NM_006351.4
p.P413_D414Splc
c.1240-31T>A
1 paper
NM_006351.4
p.V422M
c.1264G>A
1 paper
NM_006351.4
p.L425L
c.1275C>T
1 paper
NM_006351.4
p.Y435Y
c.1305C>T
2 papers
NM_006351.4
p.A436V
c.1307C>T
1 paper
NM_006351.4
p.S447T
c.1340G>C
1 paper
NM_006351.4
p.D337H
c.1009G>C
1 paper
NM_006351.4
p.A330A
c.990C>T
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