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.E505E

c.1515G>A

Surrounding Variants

1 paper

NM_018068.5

p.M514V

c.1540A>G

1 paper

NM_018068.5

p.H483D

c.1447C>G

1 paper

NM_018068.5

p.P476L

c.1427C>T

1 paper

NM_018068.5

p.R428C

c.1282C>T

1 paper

NM_018068.5

p.G415D

c.1244G>A

1 paper

NM_018068.5

p.T410S

c.1229C>G

1 paper

NM_018068.5

p.T410S

c.1228A>T

1 paper

NM_018068.5

p.A396V

c.1187C>T

1 paper

NM_018068.5

p.I539L

c.1615A>C

1 paper

NM_018068.5

p.T546T

c.1638C>A

2 papers

NM_018068.5

p.R566H

c.1697G>A

1 paper

NM_018068.5

p.E591K

c.1771G>A