Varaico: Literature-Extracted Genetic Variants

Gene:RHOT2
Variant:p.C363Y

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.C363Y
c.1088G>A
Surrounding Variants
1 paper
NM_138769.3
p.L362P
c.1085T>C
1 paper
NM_138769.3
p.T366N
c.1097C>A
1 paper
NM_138769.3
p.T366I
c.1097C>T
1 paper
NM_138769.3
p.G354S
c.1060G>A
1 paper
NM_138769.3
p.A353A
c.1059C>T
1 paper
NM_138769.3
p.E344K
c.1030G>A
1 paper
NM_138769.3
p.P326S
c.976C>T
1 paper
NM_138769.3
p.R374W
c.1120C>T
1 paper
NM_138769.3
p.S375R
c.1123A>C
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.A323T
c.967G>A
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