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.E848K

c.2542G>A

Surrounding Variants

1 paper

NM_001020658.2

p.G851*

c.2551G>T

1 paper

NM_001020658.2

p.L844I

c.2530T>A

1 paper

NM_001020658.2

p.P842L

c.2525C>T

3 papers

NM_001020658.2

p.R837*

c.2509C>T

1 paper

NM_001020658.2

p.R864Splc

c.2591+3G>A

1 paper

NM_001020658.2

p.S806N

c.2417G>A

1 paper

NM_001020658.2

p.S802F

c.2405C>T

1 paper

NM_001020658.2

p.K794T

c.2381A>C

1 paper

NM_001020658.2

p.A793A

c.2379C>A

1 paper

NM_001020658.2

p.P789A

c.2365C>G

1 paper

NM_001020658.2

p.Y784*

c.2352C>G

1 paper

NM_001020658.2

p.Y784*

c.2352C>A