Varaico: Literature-Extracted Genetic Variants

Gene:AGO4
Variant:p.Q628P

AGO4

79 papers

RefSeq Summary

This gene encodes a member of the Argonaute family of proteins which contain PAZ and PIWI domains and play an integral role in RNA interference and short-interfering-RNA-mediated gene silencing. This ...

Pfam Domains

ArgoNaa 26–156UCSCN-terminal domain of argonaute
ArgoL1aa 166–216UCSCArgonaute linker 1 domain
PAZaa 221–355UCSCPAZ domain
ArgoL2aa 364–412UCSCArgonaute linker 2 domain
ArgoMidaa 421–503UCSCMid domain of argonaute
Piwiaa 509–820UCSCPiwi domain

Gene Aliases

HGNC Name

argonaute RISC component 4

HGNC Previous Symbol

EIF2C4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017629.4
p.Q628P
c.1883A>C
Surrounding Variants
1 paper
NM_017629.4
p.R627L
c.1880G>T
1 paper
NM_017629.4
p.R627G
c.1879C>G
1 paper
NM_017629.4
p.R627W
c.1879C>T
1 paper
NM_017629.4
p.Q632L
c.1895A>T
1 paper
NM_017629.4
p.Q638*
c.1912C>T
1 paper
NM_017629.4
p.E639K
c.1915G>A
1 paper
NM_017629.4
p.E639*
c.1915G>T
1 paper
NM_017629.4
p.R616Q
c.1847G>A
1 paper
NM_017629.4
p.R616W
c.1846C>T
1 paper
NM_017629.4
p.S615G
c.1843A>G
2 papers
NM_017629.4
p.H613P
c.1838A>C
1 paper
NM_017629.4
p.T645I
c.1934C>T
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