Varaico: Literature-Extracted Genetic Variants

Gene:RHOT2

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
1–12 of 79 variants
7 papers
NM_138769.3
p.R425C
c.1273C>T
5 papers
NM_138769.3
p.A88T
c.262G>A
3 papers
NM_138769.3
p.R245Q
c.734G>A
2 papers
NM_138769.3
p.A13V
c.38C>T
2 papers
NM_138769.3
p.V81A
c.242T>C
2 papers
NM_138769.3
p.R123Q
c.368G>A
2 papers
NM_138769.3
p.Q260*
c.778C>T
2 papers
NM_138769.3
p.G262S
c.784G>A
2 papers
NM_138769.3
p.G262A
c.785G>C
2 papers
NM_138769.3
p.T412M
c.1235C>T
2 papers
NM_138769.3
p.E541K
c.1621G>A
2 papers
NM_138769.3
p.T565_I566del1
c.1694_1696delCCA
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."