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.Q360*

c.1078C>T

Surrounding Variants

1 paper

NM_012154.5

p.Q360del1

c.1078_1079delCTG

1 paper

NM_012154.5

p.D358A

c.1073A>C

1 paper

NM_012154.5

p.D358N

c.1072G>A

5 papers

NM_012154.5

p.T357M

c.1070C>T

6 papers

NM_012154.5

p.M364T

c.1091T>C

2 papers

NM_012154.5

p.K355R

c.1064A>G

1 paper

NM_012154.5

p.K354R

c.1061A>G

3 papers

NM_012154.5

p.A367P

c.1099G>C

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

1 paper

NM_012154.5

p.R370R

c.1108A>C