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

1–12 of 69 variants

3 papers

NM_018068.5

p.Y243del1

c.727_729delTAT

3 papers

NM_018068.5

p.H244delFs

c.731_732delAT

3 papers

NM_018068.5

p.P249S

c.745C>T

3 papers

NM_018068.5

p.G727_L729del3

c.2179_2186del9

2 papers

NM_018068.5

p.Y280S

c.839A>C

2 papers

NM_018068.5

p.E505E

c.1515G>A

2 papers

NM_018068.5

p.R566H

c.1697G>A

2 papers

NM_018068.5

p.L719F

c.2155C>T

2 papers

NM_018068.5

p.L822V

c.2464C>G

1 paper

NM_018068.5

p.M1V

c.1A>G

1 paper

NM_018068.5

p.A38D

c.113C>A

1 paper

NM_018068.5

p.G70S

c.208G>A