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

Selected Variant

3 papers

NM_017629.4

p.K599N

c.1797G>T

Surrounding Variants

3 papers

NM_017629.4

p.K599N

c.1797G>C

1 paper

NM_017629.4

p.A605T

c.1813G>A

1 paper

NM_017629.4

p.P594delFs

c.1781delC

1 paper

NM_017629.4

p.V607A

c.1820T>C

2 papers

NM_017629.4

p.D589N

c.1765G>A

1 paper

NM_017629.4

p.A588V

c.1763C>T

1 paper

NM_017629.4

p.G587*

c.1759G>T

2 papers

NM_017629.4

p.H613P

c.1838A>C

1 paper

NM_017629.4

p.F585F

c.1755C>T

1 paper

NM_017629.4

p.S615G

c.1843A>G

1 paper

NM_017629.4

p.R616W

c.1846C>T

1 paper

NM_017629.4

p.V583D

c.1748T>A