Varaico: Literature-Extracted Genetic Variants

EIF2S1

61 papers

RefSeq Summary

The translation initiation factor EIF2 catalyzes the first regulated step of protein synthesis initiation, promoting the binding of the initiator tRNA to 40S ribosomal subunits. Binding occurs as a te...

Pfam Domains

S1aa 14–88UCSCS1 RNA binding domain

EIF_2_alphaaa 130–244UCSCEukaryotic translation initiation factor 2 alpha subunit

Gene Aliases

HGNC Name

eukaryotic translation initiation factor 2 subunit alpha

HGNC Previous Symbol

EIF2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 32 variants

2 papers

NM_004094.5

p.M1V

c.1A>G

2 papers

NM_004094.5

p.M1T

c.2T>C

1 paper

NM_004094.5

p.M1R

c.2T>G

1 paper

NM_004094.5

p.P2S

c.4C>T

1 paper

NM_004094.5

p.E15Q

c.43G>C

1 paper

NM_004094.5

p.D18V

c.53A>T

1 paper

NM_004094.5

p.E29K

c.85G>A

1 paper

NM_004094.5

p.G31R

c.91G>A

1 paper

NM_004094.5

p.G31R

c.91G>C

1 paper

NM_004094.5

p.I46V

c.136A>G

1 paper

NM_004094.5

p.S52A

c.154T>G

1 paper

NM_004094.5

p.G81Splc

c.241+1G>A