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.T1089_H1090delFs

c.3267_3270del4

Surrounding Variants

1 paper

NM_001020658.2

p.H1090fs

c.3268_3269fs

1 paper

NM_001020658.2

p.E1095E

c.3285G>A

1 paper

NM_001020658.2

p.T1116I

c.3347C>T

1 paper

NM_001020658.2

p.M1118I

c.3354G>T

1 paper

NM_001020658.2

p.M1118I

c.3354G>C

1 paper

NM_001020658.2

p.M1118I

c.3354G>A

1 paper

NM_001020658.2

p.V1133M

c.3397G>A

7 papers

NM_001020658.2

p.R1139W

c.3415C>T

1 paper

NM_001020658.2

p.R1139Q

c.3416G>A

18 papers

NM_001020658.2

p.R1147W

c.3439C>T

1 paper

NM_001020658.2

p.A1151S

c.3451G>T

1 paper

NM_001020658.2

p.A1151V

c.3452C>T