Varaico: Literature-Extracted Genetic Variants

Gene:RANGAP1
Variant:p.I45I

RANGAP1

101 papers

RefSeq Summary

This gene encodes a protein that associates with the nuclear pore complex and participates in the regulation of nuclear transport. The encoded protein interacts with Ras-related nuclear protein 1 (RAN...

Pfam Domains

LRR_6aa 114–132UCSCLeucine Rich repeat
RanGAP1_Caa 377–585UCSCRanGAP1 C-terminal domain

Gene Aliases

HGNC Name

Ran GTPase activating protein 1

HGNC Previous Symbol

SD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002883.4
p.I45I
c.135T>A
Surrounding Variants
1 paper
NM_002883.4
p.K43N
c.129A>C
1 paper
NM_002883.4
p.E52A
c.155A>C
1 paper
NM_002883.4
p.A53V
c.158C>T
1 paper
NM_002883.4
p.A38Splc
c.113-2A>G
1 paper
NM_002883.4
p.G21V
c.62G>T
2 papers
NM_002883.4
p.T16A
c.46A>G
1 paper
NM_002883.4
p.S102S
c.306A>T
1 paper
NM_002883.4
p.S120T
c.359G>C
1 paper
NM_002883.4
p.D121delFs
c.363delG
1 paper
NM_002883.4
p.A123delFs
c.367_368delGC
1 paper
NM_002883.4
p.G125R
c.373G>C
1 paper
NM_002883.4
p.G125R
c.373G>A
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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."