Varaico: Literature-Extracted Genetic Variants

Gene:RANBP2
Variant:p.L2108S

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.L2108S
c.6323T>C
Surrounding Variants
1 paper
NM_006267.5
p.W2107*
c.6321G>A
1 paper
NM_006267.5
p.W2107*
c.6320G>A
1 paper
NM_006267.5
p.M2106V
c.6316A>G
1 paper
NM_006267.5
p.G2100E
c.6299G>A
2 papers
NM_006267.5
p.Q2121R
c.6362A>G
1 paper
NM_006267.5
p.T2092M
c.6275C>T
1 paper
NM_006267.5
p.T2092fs
c.6274_6275fs
1 paper
NM_006267.5
p.T2092A
c.6274A>G
1 paper
NM_006267.5
p.T2092delFs
c.6274_6275delAC
1 paper
NM_006267.5
p.T2090M
c.6269C>T
1 paper
NM_006267.5
p.L2081L
c.6243A>C
1 paper
NM_006267.5
p.K2138*
c.6412A>T
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