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

3 papers

NM_018068.5

p.P249S

c.745C>T

Surrounding Variants

2 papers

NM_018068.5

p.Y280S

c.839A>C

1 paper

NM_018068.5

p.Q287_V288Splc

c.861+1G>A

1 paper

NM_018068.5

p.K305T

c.914A>C

1 paper

NM_018068.5

p.Q307R

c.920A>G

1 paper

NM_018068.5

p.K310R

c.929A>G

1 paper

NM_018068.5

p.C319Y

c.956G>A

1 paper

NM_018068.5

p.R328H

c.983G>A

1 paper

NM_018068.5

p.V351I

c.1051G>A

1 paper

NM_018068.5

p.R368Q

c.1103G>A

1 paper

NM_018068.5

p.G373W

c.1117G>T

1 paper

NM_018068.5

p.S248Splc

c.743+73G>A

1 paper

NM_018068.5

p.H244Y

c.730C>T