Varaico: Literature-Extracted Genetic Variants

AGO1

163 papers

RefSeq Summary

This gene encodes a member of the argonaute family of proteins, which associate with small RNAs and have important roles in RNA interference (RNAi) and RNA silencing. This protein binds to microRNAs (...

Pfam Domains

ArgoNaa 1–89UCSCN-terminal domain of argonaute

ArgoNaa 34–164UCSCN-terminal domain of argonaute

ArgoL1aa 174–224UCSCArgonaute linker 1 domain

PAZaa 229–363UCSCPAZ domain

ArgoL2aa 372–418UCSCArgonaute linker 2 domain

ArgoMidaa 427–509UCSCMid domain of argonaute

Gene Aliases

HGNC Name

argonaute RISC component 1

HGNC Previous Symbol

EIF2C1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 305 variants

17 papers

NM_012199.5

p.G199S

c.595G>A

11 papers

NM_012199.5

p.L190P

c.569T>C

9 papers

NM_012199.5

p.T355I

c.1064C>T

8 papers

NM_012199.5

p.F180del1

c.538_539delTTC

8 papers

NM_012199.5

p.D216V

c.647A>T

6 papers

NM_012199.5

p.E195K

c.583G>A

5 papers

NM_012199.5

p.G199V

c.596G>T

5 papers

NM_012199.5

p.V254I

c.760G>A

5 papers

NM_012199.5

p.H751L

c.2252A>T

4 papers

NM_012199.5

p.V52L

c.154G>T

4 papers

NM_012199.5

p.R88C

c.262C>T

4 papers

NM_012199.5

p.E376del1

c.1126_1127delGAG