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

1 paper

NM_017629.4

p.N61S

c.182A>G

Surrounding Variants

1 paper

NM_017629.4

p.R56R

c.168G>A

3 papers

NM_017629.4

p.R56L

c.167G>T

1 paper

NM_017629.4

p.K55delFs

c.165delA

1 paper

NM_017629.4

p.V44A

c.131T>C

1 paper

NM_017629.4

p.P40S

c.118C>T

1 paper

NM_017629.4

p.Q38K

c.112C>A

1 paper

NM_017629.4

p.R29*

c.85C>T

1 paper

NM_017629.4

p.R18H

c.53G>A

1 paper

NM_017629.4

p.R18insFs

c.54dupT

1 paper

NM_017629.4

p.R18C

c.52C>T

2 papers

NM_017629.4

p.R17H

c.50G>A

1 paper

NM_017629.4

p.R17C

c.49C>T