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.F200Fs

c.600delinsTAATGCATCFs

Surrounding Variants

3 papers

NM_012154.5

p.G201C

c.601G>T

1 paper

NM_012154.5

p.G201fs

c.601_602fs

4 papers

NM_012154.5

p.G201V

c.602G>T

1 paper

NM_012154.5

p.E197_V198del2

c.589_593del6

3 papers

NM_012154.5

p.H203Q

c.609T>G

3 papers

NM_012154.5

p.H203Q

c.609T>A

2 papers

NM_012154.5

p.E197Q

c.589G>C

1 paper

NM_012154.5

p.E197K

c.589G>A

1 paper

NM_012154.5

p.S205F

c.614C>T

2 papers

NM_012154.5

p.R196Q

c.587G>A

1 paper

NM_012154.5

p.V206D

c.617T>A

1 paper

NM_012154.5

p.R207W

c.619C>T