Varaico: Literature-Extracted Genetic Variants

Gene:AGO3
Variant:p.R721S

AGO3

77 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, contains a PAZ domain and a PIWI domain, and may play a role ...

Pfam Domains

ArgoNaa 28–167UCSCN-terminal domain of argonaute
ArgoL1aa 177–227UCSCArgonaute linker 1 domain
PAZaa 234–366UCSCPAZ domain
ArgoL2aa 375–421UCSCArgonaute linker 2 domain
ArgoMidaa 430–512UCSCMid domain of argonaute
Piwiaa 518–819UCSCPiwi domain

Gene Aliases

HGNC Name

argonaute RISC catalytic component 3

HGNC Previous Symbol

EIF2C3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024852.4
p.R721S
c.2163G>C
Surrounding Variants
1 paper
NM_024852.4
p.R721S
c.2163G>T
1 paper
NM_024852.4
p.E723K
c.2167G>A
1 paper
NM_024852.4
p.C718F
c.2153G>T
1 paper
NM_024852.4
p.R715R
c.2145A>C
1 paper
NM_024852.4
p.Y699C
c.2096A>G
1 paper
NM_024852.4
p.C692C
c.2076C>T
1 paper
NM_024852.4
p.R689Q
c.2066G>A
3 papers
NM_024852.4
p.R689*
c.2065C>T
1 paper
NM_024852.4
p.Q679_V680Splc
c.2038-2A>T
1 paper
NM_024852.4
p.S673L
c.2018C>T
1 paper
NM_024852.4
p.R669Q
c.2006G>A
1 paper
NM_024852.4
p.R669W
c.2005C>T
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