Varaico: Literature-Extracted Genetic Variants

Gene:RHOT2
Variant:p.K50T

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.K50T
c.149A>C
Surrounding Variants
1 paper
NM_138769.3
p.T47I
c.140C>T
1 paper
NM_138769.3
p.I40V
c.118A>G
1 paper
NM_138769.3
p.E39del1
c.115_117delGAG
1 paper
NM_138769.3
p.D65Y
c.193G>T
1 paper
NM_138769.3
p.I72insFs
c.214_215insC
1 paper
NM_138769.3
p.I72fs
c.214_215fs
1 paper
NM_138769.3
p.G26delFs
c.77delG
2 papers
NM_138769.3
p.A13V
c.38C>T
1 paper
NM_138769.3
p.M1T
c.2T>C
1 paper
NM_138769.3
p.V77del1
c.229_231delGTG
1 paper
NM_138769.3
p.C79Y
c.236G>A
2 papers
NM_138769.3
p.V81A
c.242T>C
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