Varaico: Literature-Extracted Genetic Variants

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.V285L

c.853G>T

Surrounding Variants

1 paper

NM_024852.4

p.V285L

c.853G>C

1 paper

NM_024852.4

p.R281L

c.842G>T

1 paper

NM_024852.4

p.R281C

c.841C>T

1 paper

NM_024852.4

p.A290S

c.868G>T

1 paper

NM_024852.4

p.R278Q

c.833G>A

1 paper

NM_024852.4

p.K279_R288del0

c.836_862del27

1 paper

NM_024852.4

p.R277T

c.830G>C

1 paper

NM_024852.4

p.T294Splc

c.881+1G>A

1 paper

NM_024852.4

p.H272D

c.814C>G

1 paper

NM_024852.4

p.E269D

c.807A>C

1 paper

NM_024852.4

p.E269D

c.807A>T

1 paper

NM_024852.4

p.E269_C273del5

c.805_818del15