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

3 papers

NM_012154.5

p.A367P

c.1099G>C

Surrounding Variants

1 paper

NM_012154.5

p.A367A

c.1101G>A

1 paper

NM_012154.5

p.T368_A369insFs

c.1104_1105insT

1 paper

NM_012154.5

p.A369D

c.1106C>A

6 papers

NM_012154.5

p.M364T

c.1091T>C

1 paper

NM_012154.5

p.R370R

c.1108A>C

1 paper

NM_012154.5

p.S371L

c.1112C>T

1 paper

NM_012154.5

p.P373S

c.1117C>T

1 paper

NM_012154.5

p.Q360del1

c.1078_1079delCTG

1 paper

NM_012154.5

p.D374N

c.1120G>A

1 paper

NM_012154.5

p.Q360*

c.1078C>T

1 paper

NM_012154.5

p.D374E

c.1122T>A

1 paper

NM_012154.5

p.R375L

c.1124G>T