Varaico: Literature-Extracted Genetic Variants

Gene:RCC2
Variant:p.R211W

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
Selected Variant
1 paper
NM_018715.4
p.R211W
c.631C>T
Surrounding Variants
1 paper
NM_018715.4
p.H213Y
c.637C>T
1 paper
NM_018715.4
p.H201H
c.603C>T
1 paper
NM_018715.4
p.R189fs
c.565_566fs
1 paper
NM_018715.4
p.E219Splc
c.656-43T>G
1 paper
NM_018715.4
p.G227V
c.680G>T
1 paper
NM_018715.4
p.Q248_I249Splc
c.744+1G>T
1 paper
NM_018715.4
p.G175Splc
c.523+1316G>A
1 paper
NM_018715.4
p.C261S
c.781T>A
1 paper
NM_018715.4
p.C261S
c.782G>C
1 paper
NM_018715.4
p.G262G
c.786G>T
1 paper
NM_018715.4
p.S277F
c.830C>T
1 paper
NM_018715.4
p.S157L
c.470C>T
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