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.V843Fs

c.2528_2529delinsTFs

Surrounding Variants

1 paper

NM_015317.5

p.C842F

c.2525G>T

1 paper

NM_015317.5

p.M831V

c.2491A>G

1 paper

NM_015317.5

p.F866Fs

c.2597_2598delinsTFs

2 papers

NM_015317.5

p.Q925E

c.2773C>G

1 paper

NM_015317.5

p.D826H

c.2476G>C

1 paper

NM_015317.5

p.R969H

c.2906G>A

1 paper

NM_015317.5

p.N777S

c.2330A>G

1 paper

NM_015317.5

p.Q745Q

c.2235G>A

1 paper

NM_015317.5

p.Y1032Y

c.3096C>T

1 paper

NM_015317.5

p.P1051Q

c.3152C>A

1 paper

NM_015317.5

p.G1057R

c.3169G>C

1 paper

NM_015317.5

p.G1057R

c.3169G>A