Varaico: Literature-Extracted Genetic Variants

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

2 papers

NM_017629.4

p.Q453*

c.1357C>T

Surrounding Variants

1 paper

NM_017629.4

p.Q451*

c.1351C>T

1 paper

NM_017629.4

p.D457N

c.1369G>A

1 paper

NM_017629.4

p.D457H

c.1369G>C

1 paper

NM_017629.4

p.I440N

c.1319T>A

1 paper

NM_017629.4

p.E439K

c.1315G>A

1 paper

NM_017629.4

p.A436S

c.1306G>T

1 paper

NM_017629.4

p.R430L

c.1289G>T

2 papers

NM_017629.4

p.R430G

c.1288C>G

1 paper

NM_017629.4

p.K417E

c.1249A>G

1 paper

NM_017629.4

p.R415_N416Splc

c.1246-1G>A

1 paper

NM_017629.4

p.R415W

c.1243C>T

1 paper

NM_017629.4

p.Y412insFs

c.1235_1236insC