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

1–12 of 199 variants

18 papers

NM_001020658.2

p.R1147W

c.3439C>T

11 papers

NM_001020658.2

p.T1035S

c.3103A>T

7 papers

NM_001020658.2

p.R1139W

c.3415C>T

3 papers

NM_001020658.2

p.R837*

c.2509C>T

2 papers

NM_001020658.2

p.S44S

c.132G>A

2 papers

NM_001020658.2

p.R74H

c.221G>A

2 papers

NM_001020658.2

p.K151R

c.452A>G

2 papers

NM_001020658.2

p.M340L

c.1018A>T

2 papers

NM_001020658.2

p.M340L

c.1018A>C

2 papers

NM_001020658.2

p.R706C

c.2116C>T

2 papers

NM_001020658.2

p.T725delFs

c.2173delT

2 papers

NM_001020658.2

p.T725fs

c.2173_2174fs