Varaico: Literature-Extracted Genetic Variants

Gene:RANBP2
Variant:p.L296P

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.L296P
c.887T>C
Surrounding Variants
1 paper
NM_001415872.1
p.H291R
c.872A>G
1 paper
NM_006267.5
p.M291V
c.871A>G
1 paper
NM_006267.5
p.H303R
c.908A>G
1 paper
NM_006267.5
p.S305N
c.914G>A
1 paper
NM_006267.5
p.L318*
c.953T>A
1 paper
NM_006267.5
p.C319W
c.957C>G
1 paper
NM_006267.5
p.G273S
c.817G>A
6 papers
NM_006267.5
p.L272F
c.816G>C
6 papers
NM_006267.5
p.L272F
c.816G>T
1 paper
NM_006267.5
p.G273_S279del7
c.817_836del21
1 paper
NM_006267.5
p.V269A
c.806T>C
1 paper
NM_006267.5
p.S268P
c.802T>C
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