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.I727T

c.2180T>C

Surrounding Variants

2 papers

NM_001020658.2

p.T725fs

c.2173_2174fs

2 papers

NM_001020658.2

p.T725delFs

c.2173delT

1 paper

NM_001020658.2

p.S722I

c.2165G>T

1 paper

NM_001020658.2

p.T720A

c.2158A>G

1 paper

NM_001020658.2

p.S736I

c.2207G>T

1 paper

NM_001020658.2

p.R706P

c.2117G>C

2 papers

NM_001020658.2

p.R706C

c.2116C>T

1 paper

NM_001020658.2

p.G702D

c.2105G>A

1 paper

NM_001020658.2

p.T701A

c.2101A>G

1 paper

NM_001020658.2

p.Q757*

c.2269C>T

1 paper

NM_001020658.2

p.P760L

c.2279C>T

1 paper

NM_001020658.2

p.P761L

c.2282C>T