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

Selected Variant

1 paper

NM_017542.5

p.Y171N

c.511T>A

Surrounding Variants

1 paper

NM_017542.5

p.M174I

c.522G>A

1 paper

NM_017542.5

p.M174I

c.522G>C

1 paper

NM_017542.5

p.M174I

c.522G>T

1 paper

NM_017542.5

p.S165T

c.494G>C

3 papers

NM_017542.5

p.E163K

c.487G>A

1 paper

NM_017542.5

p.E163Q

c.487G>C

1 paper

NM_017542.5

p.Y179C

c.536A>G

1 paper

NM_017542.5

p.D185V

c.554A>T

1 paper

NM_017542.5

p.R153C

c.457C>T

1 paper

NM_017542.5

p.R194W

c.580C>T

2 papers

NM_017542.5

p.R198H

c.593G>A

1 paper

NM_017542.5

p.N136Y

c.406A>T