Varaico: Literature-Extracted Genetic Variants

PIWIL1

133 papers

RefSeq Summary

This gene encodes a member of the PIWI subfamily of Argonaute proteins, evolutionarily conserved proteins containing both PAZ and Piwi motifs that play important roles in stem cell self-renewal, RNA s...

Pfam Domains

GAGEaa 1–109UCSCGAGE protein

Piwi_Naa 127–200UCSCPiwi, N-terminal domain

ArgoL1aa 227–276UCSCArgonaute linker 1 domain

PAZaa 280–413UCSCPAZ domain

Piwiaa 555–847UCSCPiwi domain

Gene Aliases

HGNC Name

piwi like RNA-mediated gene silencing 1

HGNC Alias Symbols

PIWI; HIWI; CT80.1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 151 variants

5 papers

NM_004764.5

p.R527K

c.1580G>A

4 papers

NM_004764.5

p.R230*

c.688C>T

2 papers

NM_004764.5

p.R146C

c.436C>T

2 papers

NM_004764.5

p.L150P

c.449T>C

2 papers

NM_004764.5

p.T194M

c.581C>T

2 papers

NM_004764.5

p.R370W

c.1108C>T

2 papers

NM_004764.5

p.P377S

c.1129C>T

2 papers

NM_004764.5

p.A685V

c.2054C>T

2 papers

NM_004764.5

p.R701C

c.2101C>T

2 papers

NM_004764.5

p.D702N

c.2104G>A

2 papers

NM_004764.5

p.T736M

c.2207C>T

1 paper

NM_004764.5

p.T2_G3delFs

c.4_7del4