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

1–12 of 97 variants

2 papers

NM_015317.5

p.A9V

c.26C>T

2 papers

NM_015317.5

p.N143delFs

c.427_428delTT

2 papers

NM_015317.5

p.R189H

c.566G>A

2 papers

NM_015317.5

p.A332T

c.994G>A

2 papers

NM_015317.5

p.T427_G428del1

c.1281_1283delCCA

2 papers

NM_015317.5

p.T427_G428del2

c.1279_1283del6

2 papers

NM_015317.5

p.A483_A484del1

c.1449_1451delGCT

2 papers

NM_015317.5

p.Q925E

c.2773C>G

1 paper

NM_015317.5

p.H3insFs

c.7_8insC

1 paper

NM_015317.5

p.D4A

c.11A>C

1 paper

NM_015317.5

p.A7_L8insC

c.19_23ins3

1 paper

NM_015317.5

p.G14V

c.41G>T