Varaico: Literature-Extracted Genetic Variants

Gene:RANGAP1
Variant:p.E384_E385del2

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.E384_E385del2
c.1150_1154del6
Surrounding Variants
1 paper
NM_002883.4
p.E385E
c.1155A>G
1 paper
NM_002883.4
p.E384_E385del1
c.1152_1154delTCC
1 paper
NM_002883.4
p.E390E
c.1170G>A
1 paper
NM_002883.4
p.D383E
c.1149T>G
1 paper
NM_002883.4
p.D383E
c.1149T>A
1 paper
NM_002883.4
p.E382delFs
c.1146delT
1 paper
NM_002883.4
p.E382fs
c.1144_1145fs
1 paper
NM_002883.4
p.R401Q
c.1202G>A
1 paper
NM_002883.4
p.E368del1
c.1102_1103delTTC
1 paper
NM_002883.4
p.E367_E368del2
c.1099_1103del6
1 paper
NM_002883.4
p.E368delFs
c.1104delT
1 paper
NM_002883.4
p.E368fs
c.1102_1103fs
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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."