Varaico: Literature-Extracted Genetic Variants

EIF2AK1

150 papers

RefSeq Summary

The protein encoded by this gene acts at the level of translation initiation to downregulate protein synthesis in response to stress. The encoded protein is a kinase that can be inactivated by hemin. ...

Pfam Domains

HRI2_3Haa 62–142UCSCHeme-regulated eIF-2-alpha kinase, helical domain

Pkinaseaa 167–242UCSCProtein kinase domain

Pkinaseaa 340–583UCSCProtein kinase domain

Gene Aliases

HGNC Name

eukaryotic translation initiation factor 2 alpha kinase 1

HGNC Alias Symbols

HRI; KIAA1369; hHRI; HCR

Papers

RefSeq ID

Protein change

DNA change

1–12 of 102 variants

3 papers

NM_014413.4

p.R136H

c.407G>A

3 papers

NM_014413.4

p.K196R

c.587A>G

3 papers

NM_014413.4

p.K558R

c.1673A>G

2 papers

NM_014413.4

p.P53L

c.158C>T

2 papers

NM_014413.4

p.L164I

c.490T>A

2 papers

NM_014413.4

p.E359K

c.1075G>A

2 papers

NM_014413.4

p.L613F

c.1837C>T

1 paper

NM_014413.4

p.M1V

c.1A>G

1 paper

NM_014413.4

p.M1_Q2insFs

c.3_4insT

1 paper

NM_014413.4

p.E12*

c.34G>T

1 paper

NM_014413.4

p.D35Y

c.103G>T

1 paper

NM_014413.4

p.D35N

c.103G>A