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.V186G

c.557T>G

Surrounding Variants

1 paper

NM_015317.5

p.E188K

c.562G>A

2 papers

NM_015317.5

p.R189H

c.566G>A

1 paper

NM_015317.5

p.R179H

c.536G>A

1 paper

NM_015317.5

p.T194T

c.582T>C

1 paper

NM_015317.5

p.G177G

c.531A>T

1 paper

NM_015317.5

p.R174H

c.521G>A

1 paper

NM_015317.5

p.G201G

c.603G>A

1 paper

NM_015317.5

p.L203V

c.607C>G

1 paper

NM_015317.5

p.E220K

c.658G>A

1 paper

NM_015317.5

p.E233D

c.699A>T

1 paper

NM_015317.5

p.E233D

c.699A>C

1 paper

NM_015317.5

p.D247A

c.740A>C