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.R211R

c.633A>G

Surrounding Variants

1 paper

NM_001020658.2

p.S214N

c.641G>A

1 paper

NM_001020658.2

p.G215W

c.643G>T

1 paper

NM_001020658.2

p.V207L

c.619G>T

1 paper

NM_001020658.2

p.V207L

c.619G>C

1 paper

NM_001020658.2

p.P194P

c.582T>C

1 paper

NM_001020658.2

p.G231D

c.692G>A

1 paper

NM_001020658.2

p.D232_L235Fs

c.696_705delinsTTCCTGTCTTCCTGTCTAFs

1 paper

NM_001020658.2

p.R236fs

c.706_707fs

1 paper

NM_001020658.2

p.Q186E

c.556C>G

1 paper

NM_001020658.2

p.S183*

c.548C>G

1 paper

NM_001020658.2

p.S183*

c.548C>A

1 paper

NM_001020658.2

p.H182delFs

c.546delA