Varaico: Literature-Extracted Genetic Variants

PUM1

131 papers

RefSeq Summary

This gene encodes a member of the PUF family, evolutionarily conserved RNA-binding proteins related to the Pumilio proteins of Drosophila and the fem-3 mRNA binding factor proteins of C. elegans. The ...

Pfam Domains

PUFaa 852–886UCSCPumilio-family RNA binding repeat

PUFaa 889–922UCSCPumilio-family RNA binding repeat

PUFaa 924–957UCSCPumilio-family RNA binding repeat

PUFaa 960–992UCSCPumilio-family RNA binding repeat

PUFaa 996–1030UCSCPumilio-family RNA binding repeat

PUFaa 1032–1066UCSCPumilio-family RNA binding repeat

Gene Aliases

HGNC Name

pumilio RNA binding family member 1

HGNC Alias Symbols

PUMH1; KIAA0099

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001020658.2

p.R74C

c.220C>T

Surrounding Variants

2 papers

NM_001020658.2

p.R74H

c.221G>A

1 paper

NM_001020658.2

p.D77H

c.229G>C

1 paper

NM_001020658.2

p.D78D

c.234C>T

1 paper

NM_001020658.2

p.A79S

c.235G>T

1 paper

NM_001020658.2

p.A79T

c.235G>A

1 paper

NM_001020658.2

p.G67V

c.200G>T

1 paper

NM_001020658.2

p.V81_D82insFs

c.243_244insCT

1 paper

NM_001020658.2

p.H61insFs

c.182dupA

1 paper

NM_001020658.2

p.H61fs

c.181_182fs

1 paper

NM_001020658.2

p.Q88*

c.262C>T

1 paper

NM_001020658.2

p.A58P

c.172G>C

1 paper

NM_001020658.2

p.G95R

c.283G>C