Varaico: Literature-Extracted Genetic Variants

POGK

47 papers

RefSeq Summary

The exact function of the protein encoded by this gene is not known. However, this gene product contains a KRAB domain (which is involved in protein-protein interactions) at the N-terminus, and a tran...

Pfam Domains

KRABaa 46–87UCSCKRAB box

BrkDBDaa 195–247UCSCBrinker DNA-binding domain

HTH_Tnp_Tc5aa 259–323UCSCTc5 transposase DNA-binding domain

DDE_1aa 395–567UCSCDDE superfamily endonuclease

Gene Aliases

HGNC Name

pogo transposable element derived with KRAB domain

HGNC Alias Symbols

KIAA15131; LST003; BASS2; KRBOX2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 56 variants

4 papers

NM_017542.5

p.D58N

c.172G>A

3 papers

NM_017542.5

p.E163K

c.487G>A

3 papers

NM_017542.5

p.T366M

c.1097C>T

2 papers

NM_017542.5

p.R198H

c.593G>A

1 paper

NM_017542.5

p.S3Y

c.8C>A

1 paper

NM_017542.5

p.R24Q

c.71G>A

1 paper

NM_017542.5

p.E25D

c.75A>C

1 paper

NM_017542.5

p.E25D

c.75A>T

1 paper

NM_017542.5

p.V45I

c.133G>A

1 paper

NM_017542.5

p.V45L

c.133G>C

1 paper

NM_017542.5

p.P46L

c.137C>T

1 paper

NM_017542.5

p.E87K

c.259G>A