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.P743delFs

c.2229delG

Surrounding Variants

1 paper

NM_012154.5

p.T744fs

c.2230_2231fs

1 paper

NM_012154.5

p.T741A

c.2221A>G

5 papers

NM_012154.5

p.C751Y

c.2252G>A

1 paper

NM_012154.5

p.V736L

c.2206G>T

1 paper

NM_012154.5

p.V736L

c.2206G>C

1 paper

NM_012154.5

p.S752G

c.2254A>G

1 paper

NM_012154.5

p.H753fs

c.2257_2258fs

1 paper

NM_012154.5

p.H753_A754insFs

c.2259_2260insA

5 papers

NM_012154.5

p.G733R

c.2197G>C

2 papers

NM_012154.5

p.S760R

c.2278A>C

2 papers

NM_012154.5

p.S760R

c.2280C>G

2 papers

NM_012154.5

p.S760R

c.2280C>A