Varaico: Literature-Extracted Genetic Variants

Gene:RHOT2
Variant:p.R547Q

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.R547Q
c.1640G>A
Surrounding Variants
1 paper
NM_138769.3
p.R544H
c.1631G>A
2 papers
NM_138769.3
p.E541K
c.1621G>A
2 papers
NM_138769.3
p.T565_I566del1
c.1694_1696delCCA
1 paper
NM_138769.3
p.L520F
c.1558C>T
1 paper
NM_138769.3
p.C519*
c.1557C>A
1 paper
NM_138769.3
p.P518H
c.1553C>A
1 paper
NM_138769.3
p.D514H
c.1540G>C
1 paper
NM_138769.3
p.P586L
c.1757C>T
1 paper
NM_138769.3
p.G599W
c.1795G>T
1 paper
NM_138769.3
p.A604T
c.1810G>A
1 paper
NM_138769.3
p.G438C
c.1312G>T
1 paper
NM_138769.3
p.A435S
c.1303G>T
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