Varaico: Literature-Extracted Genetic Variants

Gene:RANBP2
Variant:p.S2447F

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.S2447F
c.7340C>T
Surrounding Variants
1 paper
NM_006267.5
p.P2451S
c.7351C>T
1 paper
NM_006267.5
p.D2437delins
c.7309_7311delinsTAA
1 paper
NM_006267.5
p.I2467_A2468ins8
c.7401_7402ins24
1 paper
NM_006267.5
p.A2420A
c.7260T>C
2 papers
NM_006267.5
p.G2485V
c.7454G>T
4 papers
NM_006267.5
p.A2406T
c.7216G>A
1 paper
NM_006267.5
p.D2490G
c.7469A>G
1 paper
NM_006267.5
p.T2492P
c.7474A>C
3 papers
NM_006267.5
p.T2492A
c.7474A>G
1 paper
NM_006267.5
p.T2398A
c.7192A>G
1 paper
NM_006267.5
p.T2398S
c.7192A>T
2 papers
NM_006267.5
p.T2500I
c.7499C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."