Varaico: Literature-Extracted Genetic Variants

PIWIL2

72 papers

RefSeq Summary

PIWIL2 belongs to the Argonaute family of proteins, which function in development and maintenance of germline stem cells (Sasaki et al., 2003 [PubMed 12906857]).[supplied by OMIM, Mar 2008].

Pfam Domains

Piwi_Naa 238–311UCSCPiwi, N-terminal domain

ArgoL1aa 338–387UCSCArgonaute linker 1 domain

PAZaa 391–524UCSCPAZ domain

Piwiaa 668–959UCSCPiwi domain

Gene Aliases

HGNC Name

piwi like RNA-mediated gene silencing 2

HGNC Alias Symbols

HILI; FLJ10351; Mili; CT80

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_018068.5

p.L822V

c.2464C>G

Surrounding Variants

1 paper

NM_018068.5

p.G816A

c.2447G>C

1 paper

NM_018068.5

p.G816R

c.2446G>A

1 paper

NM_018068.5

p.G816R

c.2446G>C

1 paper

NM_018068.5

p.K846N

c.2538G>T

1 paper

NM_018068.5

p.E885A

c.2654A>C

1 paper

NM_018068.5

p.W886Splc

c.2658-1022A>G

1 paper

NM_018068.5

p.H905R

c.2714A>G

1 paper

NM_018068.5

p.C908Y

c.2723G>A