Varaico: Literature-Extracted Genetic Variants

Gene:RCC2
Variant:p.A111E

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.A111E
c.332C>A
Surrounding Variants
1 paper
NM_018715.4
p.R119Q
c.356G>A
1 paper
NM_018715.4
p.C102W
c.306C>G
1 paper
NM_018715.4
p.L132L
c.396C>T
1 paper
NM_018715.4
p.W137G
c.409T>G
1 paper
NM_018715.4
p.R141I
c.422G>T
1 paper
NM_018715.4
p.A146V
c.437C>T
1 paper
NM_018715.4
p.R149W
c.445C>T
1 paper
NM_018715.4
p.S157L
c.470C>T
1 paper
NM_018715.4
p.G175Splc
c.523+1316G>A
1 paper
NM_018715.4
p.R189fs
c.565_566fs
1 paper
NM_018715.4
p.H201H
c.603C>T
1 paper
NM_018715.4
p.R211W
c.631C>T
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