Varaico: Literature-Extracted Genetic Variants

Gene:RANGAP1
Variant:p.S504A

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.S504A
c.1510T>G
Surrounding Variants
1 paper
NM_002883.4
p.S504F
c.1511C>T
1 paper
NM_002883.4
p.S506A
c.1516T>G
1 paper
NM_002883.4
p.N508S
c.1523A>G
2 papers
NM_002883.4
p.K524R
c.1571A>G
1 paper
NM_002883.4
p.Q548*
c.1642C>T
1 paper
NM_002883.4
p.S478A
c.1432T>G
1 paper
NM_002883.4
p.R448L
c.1343G>T
1 paper
NM_002883.4
p.D433fs
c.1297_1298fs
1 paper
NM_002883.4
p.V587V
c.1761C>G
1 paper
NM_002883.4
p.T419A
c.1255A>G
2 papers
NM_002883.4
p.R412W
c.1234C>T
1 paper
NM_002883.4
p.T409T
c.1227G>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."