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.A446_V448del3

c.1336_1343del9

Surrounding Variants

1 paper

NM_015317.5

p.A478G

c.1433C>G

2 papers

NM_015317.5

p.A483_A484del1

c.1449_1451delGCT

1 paper

NM_015317.5

p.S535G

c.1603A>G

1 paper

NM_015317.5

p.A582D

c.1745C>A

1 paper

NM_015317.5

p.L588fs

c.1762_1763fs

1 paper

NM_015317.5

p.M624T

c.1871T>C

2 papers

NM_015317.5

p.T427_G428del2

c.1279_1283del6

1 paper

NM_015317.5

p.G428_M429ins2

c.1284_1285ins6

2 papers

NM_015317.5

p.T427_G428del1

c.1281_1283delCCA

1 paper

NM_015317.5

p.G428ins2

c.1283_1284ins6

1 paper

NM_015317.5

p.G403E

c.1208G>A

1 paper

NM_015317.5

p.A388T

c.1162G>A