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.P110delFs

c.329delC

Surrounding Variants

1 paper

NM_017629.4

p.L109F

c.325C>T

1 paper

NM_017629.4

p.T108S

c.323C>G

1 paper

NM_017629.4

p.T108S

c.322A>T

1 paper

NM_017629.4

p.E112D

c.336G>C

1 paper

NM_017629.4

p.E112D

c.336G>T

1 paper

NM_017629.4

p.E106Q

c.316G>C

2 papers

NM_017629.4

p.M105V

c.313A>G

1 paper

NM_017629.4

p.D115N

c.343G>A

1 paper

NM_017629.4

p.D104Y

c.310G>T

1 paper

NM_017629.4

p.L133I

c.397C>A

1 paper

NM_017629.4

p.H140R

c.419A>G

1 paper

NM_017629.4

p.H140H

c.420C>T