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.Y243del1

c.727_729delTAT

Surrounding Variants

1 paper

NM_018068.5

p.H244Y

c.730C>T

3 papers

NM_018068.5

p.H244delFs

c.731_732delAT

1 paper

NM_018068.5

p.L230L

c.690C>T

1 paper

NM_018068.5

p.Q224*

c.670C>T

1 paper

NM_018068.5

p.G218R

c.652G>A

1 paper

NM_018068.5

p.G218R

c.652G>C

1 paper

NM_018068.5

p.S248Splc

c.743+73G>A

1 paper

NM_018068.5

p.L204L

c.610C>T

1 paper

NM_018068.5

p.V203L

c.607G>C

1 paper

NM_018068.5

p.V138I

c.412G>A

1 paper

NM_018068.5

p.F120Y

c.359T>A

1 paper

NM_018068.5

p.G103D

c.308G>A