Varaico: Literature-Extracted Genetic Variants

Gene:EIF4G1
Variant:p.A502V

EIF4G1

305 papers

RefSeq Summary

The protein encoded by this gene is a component of the multi-subunit protein complex EIF4F. This complex facilitates the recruitment of mRNA to the ribosome, which is a rate-limiting step during the i...

Pfam Domains

MIF4Gaa 761–989UCSCMIF4G domain
MA3aa 1242–1354UCSCMA3 domain
W2aa 1520–1599UCSCeIF4-gamma/eIF5/eIF2-epsilon

Gene Aliases

HGNC Name

eukaryotic translation initiation factor 4 gamma 1

HGNC Previous Symbol

EIF4F

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
35 papers
NM_198241.3
p.A502V
c.1505C>T
Surrounding Variants
2 papers
NM_198241.3
p.A502G
c.1505C>G
1 paper
NM_198241.3
p.N498Y
c.1492A>T
1 paper
NM_198241.3
p.I491F
c.1471A>T
6 papers
NM_198241.3
p.P486S
c.1456C>T
1 paper
NM_198241.3
p.P485R
c.1454C>G
1 paper
NM_198241.3
p.P485L
c.1454C>T
1 paper
NM_198241.3
p.P485fs
c.1453_1454fs
1 paper
NM_198241.3
p.P485_P486del2
c.1453_1457del6
1 paper
NM_198241.3
p.L483P
c.1448T>C
1 paper
NM_198241.3
p.V507Splc
c.1519+46C>G
1 paper
NM_198241.3
p.E477K
c.1429G>A
1 paper
NM_198241.3
p.E473E
c.1419A>G
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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."