Varaico: Literature-Extracted Genetic Variants

Gene:RHOT2
Variant:p.G438C

RHOT2

78 papers

RefSeq Summary

This gene encodes a member of the Rho family of GTPases. The encoded protein is localized to the outer mitochondrial membrane and plays a role in mitochondrial trafficking and fusion-fission dynamics....

Pfam Domains

Rasaa 6–168UCSCRas family
EF_assoc_2aa 220–306UCSCEF hand associated
EF_assoc_1aa 342–412UCSCEF hand associated

Gene Aliases

HGNC Name

ras homolog family member T2

HGNC Previous Symbols

C16orf39; ARHT2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138769.3
p.G438C
c.1312G>T
Surrounding Variants
1 paper
NM_138769.3
p.A435S
c.1303G>T
7 papers
NM_138769.3
p.R425C
c.1273C>T
1 paper
NM_138769.3
p.V416G
c.1247T>G
1 paper
NM_138769.3
p.R414W
c.1240C>T
2 papers
NM_138769.3
p.T412M
c.1235C>T
1 paper
NM_138769.3
p.E402K
c.1204G>A
1 paper
NM_138769.3
p.R401C
c.1201C>T
1 paper
NM_138769.3
p.I397L
c.1189A>C
1 paper
NM_138769.3
p.A394S
c.1180G>T
1 paper
NM_138769.3
p.S375R
c.1125C>A
1 paper
NM_138769.3
p.S375R
c.1125C>G
1 paper
NM_138769.3
p.S375R
c.1123A>C
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