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

1–12 of 367 variants

13 papers

NM_012154.5

p.D669A

c.2006A>C

12 papers

NM_012154.5

p.D597A

c.1790A>C

6 papers

NM_012154.5

p.M364T

c.1091T>C

5 papers

NM_012154.5

p.F182del1

c.544_545delGAA

5 papers

NM_012154.5

p.L192P

c.575T>C

5 papers

NM_012154.5

p.T357M

c.1070C>T

5 papers

NM_012154.5

p.G733R

c.2197G>C

5 papers

NM_012154.5

p.C751Y

c.2252G>A

4 papers

NM_012154.5

p.G201V

c.602G>T

4 papers

NM_012154.5

p.A603fs

c.1807_1808fs

3 papers

NM_012154.5

p.G201C

c.601G>T

3 papers

NM_012154.5

p.H203Q

c.609T>G