Varaico: Literature-Extracted Genetic Variants

Gene:RCC2

RCC2

50 papers

RefSeq Summary

The protein encoded by this gene is a guanine exchange factor that is active on RalA, a small GTPase. The encoded protein and RalA are both essential for proper kinetochore-microtubule function in ear...

Pfam Domains

WD40_RLDaa 105–498UCSCRCC1-like domain

Gene Aliases

HGNC Name

regulator of chromosome condensation 2

HGNC Alias Symbol

TD-60

Papers
RefSeq ID
Protein change
DNA change
1–12 of 60 variants
3 papers
NM_018715.4
p.L343L
c.1029G>A
1 paper
NM_018715.4
p.A10del1
c.28_29delGGC
1 paper
NM_018715.4
p.S15G
c.43A>G
1 paper
NM_018715.4
p.A32_G33delins
c.96_97delinsAT
1 paper
NM_018715.4
p.G49S
c.145G>A
1 paper
NM_018715.4
p.A75T
c.223G>A
1 paper
NM_018715.4
p.A78V
c.233C>T
1 paper
NM_018715.4
p.E93Q
c.277G>C
1 paper
NM_018715.4
p.C102W
c.306C>G
1 paper
NM_018715.4
p.A111E
c.332C>A
1 paper
NM_018715.4
p.R119Q
c.356G>A
1 paper
NM_018715.4
p.L132L
c.396C>T
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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."