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

1 paper

NM_017629.4

p.Y412insFs

c.1235_1236insC

Surrounding Variants

1 paper

NM_017629.4

p.R415W

c.1243C>T

1 paper

NM_017629.4

p.V404G

c.1211T>G

1 paper

NM_017629.4

p.E388K

c.1162G>A

1 paper

NM_017629.4

p.S375R

c.1125C>A

1 paper

NM_017629.4

p.S375R

c.1125C>G

1 paper

NM_017629.4

p.S375R

c.1123A>C

1 paper

NM_017629.4

p.R415_N416Splc

c.1246-1G>A

1 paper

NM_017629.4

p.K417E

c.1249A>G

1 paper

NM_017629.4

p.D364N

c.1090G>A

1 paper

NM_017629.4

p.A357V

c.1070C>T

1 paper

NM_017629.4

p.M354I

c.1062G>A

1 paper

NM_017629.4

p.M354I

c.1062G>C