Varaico: Literature-Extracted Genetic Variants

Gene:EIF4G1
Variant:p.D529N

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
1 paper
NM_198241.3
p.D529N
c.1585G>A
Surrounding Variants
1 paper
NM_198241.3
p.D532N
c.1594G>A
1 paper
NM_004953.5
p.E329G
c.986A>G
3 papers
NM_198241.3
p.E525del1
c.1573_1574delGAG
1 paper
NM_198241.3
p.K519_K523delFs
c.1555_1568del14
1 paper
NM_198241.3
p.K517fs
c.1549_1550fs
1 paper
NM_198241.3
p.I518_N522delFs
c.1552_1565del14
1 paper
NM_198241.3
p.R516W
c.1546C>T
1 paper
NM_198241.3
p.V511M
c.1531G>A
1 paper
NM_198241.3
p.V507V
c.1521G>A
2 papers
NM_198241.3
p.V507Splc
c.1520-22T>C
NM_001194947.2
p.V514Splc
c.1541-22T>C
1 paper
NM_198241.3
p.A537V
c.1610C>T
1 paper
NM_198241.3
p.P539L
c.1616C>T
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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."