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

2 papers

NM_012154.5

p.S760R

c.2278A>C

Surrounding Variants

2 papers

NM_012154.5

p.S760R

c.2280C>G

2 papers

NM_012154.5

p.S760R

c.2280C>A

1 paper

NM_012154.5

p.D771N

c.2311G>A

2 papers

NM_012154.5

p.N772S

c.2315A>G

1 paper

NM_012154.5

p.R773H

c.2318G>A

1 paper

NM_012154.5

p.S776A

c.2326T>G

1 paper

NM_012154.5

p.Q780*

c.2338C>T

1 paper

NM_012154.5

p.R792C

c.2374C>T

1 paper

NM_012154.5

p.S796F

c.2387C>T

1 paper

NM_012154.5

p.A801V

c.2402C>T

1 paper

NM_012154.5

p.A806V

c.2417C>T

2 papers

NM_012154.5

p.H807R

c.2420A>G