Varaico: Literature-Extracted Genetic Variants

Gene:RCC2
Variant:p.V327I

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.V327I
c.979G>A
Surrounding Variants
1 paper
NM_018715.4
p.L325L
c.973C>T
1 paper
NM_018715.4
p.R333*
c.997C>T
1 paper
NM_018715.4
p.I316T
c.947T>C
1 paper
NM_018715.4
p.A339T
c.1015G>A
1 paper
NM_018715.4
p.T342M
c.1025C>T
1 paper
NM_018715.4
p.T342_L343Splc
c.1026+1G>A
1 paper
NM_018715.4
p.R310R
c.930G>T
1 paper
NM_018715.4
p.R310W
c.928C>T
1 paper
NM_018715.4
p.L307L
c.921A>G
1 paper
NM_018715.4
p.A296T
c.886G>A
3 papers
NM_018715.4
p.L343L
c.1029G>A
1 paper
NM_018715.4
p.W354*
c.1061G>A
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