Varaico: Literature-Extracted Genetic Variants

Gene:RANBP2
Variant:p.V2040L

RANBP2

499 papers

RefSeq Summary

RAN is a small GTP-binding protein of the RAS superfamily that is associated with the nuclear membrane and is thought to control a variety of cellular functions through its interactions with other pro...

Pfam Domains

Ran_BP1aa 1183–1304UCSCRanBP1 domain
Zn_ribbon_RanBPaa 1351–1381UCSCZn-finger in Ran binding protein and others
Zn_ribbon_RanBPaa 1415–1444UCSCZn-finger in Ran binding protein and others
Zn_ribbon_RanBPaa 1479–1508UCSCZn-finger in Ran binding protein and others
Zn_ribbon_RanBPaa 1543–1572UCSCZn-finger in Ran binding protein and others
Zn_ribbon_RanBPaa 1606–1635UCSCZn-finger in Ran binding protein and others

Gene Aliases

HGNC Name

RAN binding protein 2

HGNC Previous Symbol

ANE1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006267.5
p.V2040L
c.6118G>T
Surrounding Variants
1 paper
NM_006267.5
p.V2040L
c.6118G>C
1 paper
NM_006267.5
p.V2040E
c.6119T>A
1 paper
NM_006267.5
p.R2039G
c.6115C>G
1 paper
NM_006267.5
p.D2031G
c.6092A>G
1 paper
NM_006267.5
p.E2030_D2031del1
c.6090_6092delAGA
1 paper
NM_006267.5
p.G2028fs
c.6082_6083fs
1 paper
NM_006267.5
p.W2052R
c.6154T>A
1 paper
NM_006267.5
p.W2052R
c.6154T>C
1 paper
NM_006267.5
p.V2023I
c.6067G>A
1 paper
NM_006267.5
p.S2008T
c.6023G>C
1 paper
NM_006267.5
p.E2078Q
c.6232G>C
1 paper
NM_006267.5
p.D2000G
c.5999A>G
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