Varaico: Literature-Extracted Genetic Variants

Gene:RCC2
Variant:p.W354*

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.W354*
c.1061G>A
Surrounding Variants
1 paper
NM_018715.4
p.W354*
c.1062G>A
1 paper
NM_018715.4
p.R361Q
c.1082G>A
3 papers
NM_018715.4
p.L343L
c.1029G>A
1 paper
NM_018715.4
p.F381F
c.1143C>T
1 paper
NM_018715.4
p.R384H
c.1151G>A
1 paper
NM_018715.4
p.Q388H
c.1164G>T
1 paper
NM_018715.4
p.F407insFs
c.1220dupT
1 paper
NM_018715.4
p.W408fs
c.1222_1223fs
1 paper
NM_018715.4
p.T411I
c.1232C>T
1 paper
NM_018715.4
p.D426G
c.1277A>G
1 paper
NM_018715.4
p.I432I
c.1296C>T
1 paper
NM_018715.4
p.R433W
c.1297C>T
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