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

Selected Variant

2 papers

NM_004764.5

p.T736M

c.2207C>T

Surrounding Variants

1 paper

NM_004764.5

p.L735R

c.2204T>G

1 paper

NM_004764.5

p.V740M

c.2218G>A

1 paper

NM_004764.5

p.V740G

c.2219T>G

1 paper

NM_004764.5

p.R747R

c.2241A>G

1 paper

NM_004764.5

p.A750delFs

c.2248delG

1 paper

NM_004764.5

p.A750fs

c.2248_2249fs

1 paper

NM_004764.5

p.A750V

c.2249C>T

1 paper

NM_004764.5

p.Q751L

c.2252A>T

1 paper

NM_004764.5

p.G754*

c.2260G>T

1 paper

NM_004764.5

p.R755I

c.2264G>T

1 paper

NM_004764.5

p.P761H

c.2282C>A

1 paper

NM_004764.5

p.D766A

c.2297A>C