Varaico: Literature-Extracted Genetic Variants

AGO2

334 papers

RefSeq Summary

This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, and contains a PAZ domain and a PIWI domain. It may interact ...

Pfam Domains

ArgoNaa 36–166UCSCN-terminal domain of argonaute

ArgoL1aa 176–226UCSCArgonaute linker 1 domain

PAZaa 238–365UCSCPAZ domain

ArgoL2aa 374–420UCSCArgonaute linker 2 domain

ArgoMidaa 429–511UCSCMid domain of argonaute

Piwiaa 517–818UCSCPiwi domain

Gene Aliases

HGNC Name

argonaute RISC catalytic component 2

HGNC Previous Symbols

EIF2C2; CASC7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012154.5

p.T183I

c.548C>T

Surrounding Variants

5 papers

NM_012154.5

p.F182del1

c.544_545delGAA

1 paper

NM_012154.5

p.F182C

c.545T>G

1 paper

NM_012154.5

p.A184V

c.551C>T

2 papers

NM_012154.5

p.E186K

c.556G>A

1 paper

NM_012154.5

p.P176delFs

c.528delG

1 paper

NM_012154.5

p.P176fs

c.526_527fs

1 paper

NM_012154.5

p.N190fs

c.568_569fs

1 paper

NM_012154.5

p.N190delFs

c.569delT

5 papers

NM_012154.5

p.L192P

c.575T>C

1 paper

NM_012154.5

p.R173Splc

c.519-2A>G

2 papers

NM_012154.5

p.R196Q

c.587G>A

2 papers

NM_012154.5

p.E197Q

c.589G>C