Varaico: Literature-Extracted Genetic Variants

Gene:RANBP2
Variant:p.S1123Y

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.S1123Y
c.3368C>A
Surrounding Variants
1 paper
NM_006267.5
p.K1121N
c.3363G>C
2 papers
NM_006267.5
p.K1121N
c.3363G>T
1 paper
NM_006267.5
p.R1126Q
c.3377G>A
1 paper
NM_006267.5
p.S1117L
c.3350C>T
1 paper
NM_006267.5
p.M1115V
c.3343A>G
1 paper
NM_006267.5
p.G1108V
c.3323G>T
1 paper
NM_006267.5
p.R1096*
c.3286C>T
1 paper
NM_006267.5
p.G1090S
c.3268G>A
1 paper
NM_006267.5
p.D1157H
c.3469G>C
1 paper
NM_006267.5
p.K1085R
c.3254A>G
1 paper
NM_006267.5
p.G1163A
c.3488G>C
2 papers
NM_006267.5
p.D1167_D1168del1
c.3501_3503delTGA
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