Varaico: Literature-Extracted Genetic Variants

PUM2

72 papers

RefSeq Summary

This gene encodes a protein that belongs to a family of RNA-binding proteins. The encoded protein functions as a translational repressor during embryonic development and cell differentiation. This pro...

Pfam Domains

PUFaa 730–764UCSCPumilio-family RNA binding repeat

PUFaa 767–799UCSCPumilio-family RNA binding repeat

PUFaa 802–833UCSCPumilio-family RNA binding repeat

PUFaa 840–872UCSCPumilio-family RNA binding repeat

PUFaa 876–910UCSCPumilio-family RNA binding repeat

PUFaa 912–946UCSCPumilio-family RNA binding repeat

Gene Aliases

HGNC Name

pumilio RNA binding family member 2

HGNC Alias Symbols

PUMH2; KIAA0235

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015317.5

p.F116_G117Splc

c.349-2A>G

Surrounding Variants

1 paper

NM_015317.5

p.G117D

c.350G>A

1 paper

NM_015317.5

p.D124H

c.370G>C

2 papers

NM_015317.5

p.N143delFs

c.427_428delTT

1 paper

NM_015317.5

p.G149E

c.446G>A

1 paper

NM_015317.5

p.G149_D150del1

c.446_448delCTC

1 paper

NM_015317.5

p.G149_D150del2

c.445_449del6

1 paper

NM_015317.5

p.N115S

c.344A>G

1 paper

NM_015317.5

p.N115T

c.344A>C

1 paper

NM_015317.5

p.F111L

c.333T>G

1 paper

NM_015317.5

p.F111F

c.333T>C

1 paper

NM_015317.5

p.R110R

c.330A>C

1 paper

NM_015317.5

p.S109A

c.325T>G