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.S320S

c.960T>C

Surrounding Variants

1 paper

NM_017542.5

p.V340I

c.1018G>A

1 paper

NM_017542.5

p.A352V

c.1055C>T

1 paper

NM_017542.5

p.V357V

c.1071A>T

1 paper

NM_017542.5

p.T281I

c.842C>T

3 papers

NM_017542.5

p.T366M

c.1097C>T

1 paper

NM_017542.5

p.R375W

c.1123C>T

1 paper

NM_017542.5

p.K255fs

c.763_764fs

1 paper

NM_017542.5

p.R249W

c.745C>T

1 paper

NM_017542.5

p.A244V

c.731C>T

1 paper

NM_017542.5

p.A406T

c.1216G>A

1 paper

NM_017542.5

p.R232*

c.694C>T

1 paper

NM_017542.5

p.E228K

c.682G>A