Varaico: Literature-Extracted Genetic Variants

Gene:AGO2
Variant:p.D669A

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
13 papers
NM_012154.5
p.D669A
c.2006A>C
Surrounding Variants
1 paper
NM_012154.5
p.E673A
c.2018A>C
1 paper
NM_012154.5
p.R663C
c.1987C>T
1 paper
NM_012154.5
p.R663_I664insTT
c.1987_1991ins6
1 paper
NM_012154.5
p.F676L
c.2026T>C
1 paper
NM_012154.5
p.F676L
c.2028C>G
1 paper
NM_012154.5
p.F676L
c.2028C>A
1 paper
NM_012154.5
p.P661H
c.1982C>A
1 paper
NM_012154.5
p.F659L
c.1977C>G
1 paper
NM_012154.5
p.R658G
c.1972C>G
1 paper
NM_012154.5
p.T657A
c.1969A>G
1 paper
NM_012154.5
p.K655R
c.1964A>G
1 paper
NM_012154.5
p.A643insFs
c.1928_1929insA
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