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.R630R

c.1890C>T

Surrounding Variants

1 paper

NM_012154.5

p.R630C

c.1888C>T

1 paper

NM_012154.5

p.V629M

c.1885G>A

1 paper

NM_012154.5

p.Q633R

c.1898A>G

1 paper

NM_012154.5

p.A627T

c.1879G>A

1 paper

NM_012154.5

p.H634P

c.1901A>C

1 paper

NM_012154.5

p.R635R

c.1905G>A

2 papers

NM_012154.5

p.R624C

c.1870C>T

1 paper

NM_012154.5

p.R624_Y625insA

c.1870_1874ins3

1 paper

NM_012154.5

p.A643insFs

c.1928_1929insA

1 paper

NM_012154.5

p.G616S

c.1846G>A

1 paper

NM_012154.5

p.V615insFs

c.1844_1845insG

1 paper

NM_012154.5

p.K655R

c.1964A>G