Varaico: Literature-Extracted Genetic Variants

Gene:RHOT2
Variant:p.R123Q

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
2 papers
NM_138769.3
p.R123Q
c.368G>A
Surrounding Variants
1 paper
NM_138769.3
p.L115_G117del3
c.343_350del9
1 paper
NM_138769.3
p.E140K
c.418G>A
1 paper
NM_138769.3
p.I141fs
c.421_422fs
1 paper
NM_138769.3
p.E146D
c.438G>C
1 paper
NM_138769.3
p.V166I
c.496G>A
1 paper
NM_138769.3
p.A171fs
c.511_512fs
1 paper
NM_138769.3
p.R191C
c.571C>T
1 paper
NM_138769.3
p.S196A
c.586T>G
1 paper
NM_138769.3
p.Q213_K214Splc
c.639+60C>T
1 paper
NM_138769.3
p.K214_S215insC
c.640_644ins3
1 paper
NM_138769.3
p.D228N
c.682G>A
1 paper
NM_138769.3
p.V229_T231del3
c.685_692del9
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