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.D310V

c.929A>T

Surrounding Variants

1 paper

NM_001020658.2

p.E308fs

c.922_923fs

1 paper

NM_001020658.2

p.C302Y

c.905G>A

1 paper

NM_001020658.2

p.N329H

c.985A>C

2 papers

NM_001020658.2

p.M340L

c.1018A>T

2 papers

NM_001020658.2

p.M340L

c.1018A>C

1 paper

NM_001020658.2

p.D348N

c.1042G>A

1 paper

NM_001020658.2

p.M350I

c.1050G>T

1 paper

NM_001020658.2

p.M350I

c.1050G>C

1 paper

NM_001020658.2

p.M350I

c.1050G>A

1 paper

NM_001020658.2

p.E351*

c.1051G>T

1 paper

NM_001020658.2

p.M355V

c.1063A>G

1 paper

NM_001020658.2

p.L358V

c.1072C>G