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.F111L

c.333T>G

Surrounding Variants

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

1 paper

NM_015317.5

p.D108A

c.323A>C

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.L107M

c.319T>A

1 paper

NM_015317.5

p.A104V

c.311C>T

1 paper

NM_015317.5

p.A104G

c.311C>G

1 paper

NM_015317.5

p.S93N

c.278G>A

1 paper

NM_015317.5

p.G88R

c.262G>C

1 paper

NM_015317.5

p.G88R

c.262G>A