Varaico: Literature-Extracted Genetic Variants

Gene:RANBP2
Variant:p.I481fs

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.I481fs
c.1441_1442fs
Surrounding Variants
1 paper
NM_006267.5
p.I481M
c.1443T>G
1 paper
NM_006267.5
p.I479V
c.1435A>G
1 paper
NM_006267.5
p.S478A
c.1432T>G
2 papers
NM_006267.5
p.A475A
c.1425A>G
1 paper
NM_006267.5
p.A475T
c.1423G>A
1 paper
NM_006267.5
p.T468I
c.1403C>T
1 paper
NM_006267.5
p.R454Q
c.1361G>A
2 papers
NM_006267.5
p.E485_V486Splc
c.1456-7A>G
4 papers
NM_006267.5
p.L450F
c.1350A>C
5 papers
NM_006267.5
p.L450F
c.1350A>T
1 paper
NM_006267.5
p.P448R
c.1343C>G
1 paper
NM_006267.5
p.T438P
c.1312A>C
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