Varaico: Literature-Extracted Genetic Variants

AGO4

79 papers

RefSeq Summary

This gene encodes a member of the Argonaute family of proteins which contain PAZ and PIWI domains and play an integral role in RNA interference and short-interfering-RNA-mediated gene silencing. This ...

Pfam Domains

ArgoNaa 26–156UCSCN-terminal domain of argonaute

ArgoL1aa 166–216UCSCArgonaute linker 1 domain

PAZaa 221–355UCSCPAZ domain

ArgoL2aa 364–412UCSCArgonaute linker 2 domain

ArgoMidaa 421–503UCSCMid domain of argonaute

Piwiaa 509–820UCSCPiwi domain

Gene Aliases

HGNC Name

argonaute RISC component 4

HGNC Previous Symbol

EIF2C4

Papers

RefSeq ID

Protein change

DNA change

1–12 of 210 variants

3 papers

NM_017629.4

p.R56L

c.167G>T

3 papers

NM_017629.4

p.K599N

c.1797G>C

3 papers

NM_017629.4

p.K599N

c.1797G>T

2 papers

NM_017629.4

p.R17H

c.50G>A

2 papers

NM_017629.4

p.M105V

c.313A>G

2 papers

NM_017629.4

p.R430G

c.1288C>G

2 papers

NM_017629.4

p.Q453*

c.1357C>T

2 papers

NM_017629.4

p.D589N

c.1765G>A

2 papers

NM_017629.4

p.H613P

c.1838A>C

2 papers

NM_017629.4

p.R660C

c.1978C>T

2 papers

NM_017629.4

p.S765*

c.2294C>A

2 papers

NM_017629.4

p.S765*

c.2294C>G