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.M441I

c.1323G>T

Surrounding Variants

1 paper

NM_017542.5

p.M441I

c.1323G>A

1 paper

NM_017542.5

p.M441I

c.1323G>C

1 paper

NM_017542.5

p.Y438Y

c.1314T>C

1 paper

NM_017542.5

p.G430R

c.1288G>A

1 paper

NM_017542.5

p.G430R

c.1288G>C

1 paper

NM_017542.5

p.I469T

c.1406T>C

1 paper

NM_017542.5

p.G475A

c.1424G>C

1 paper

NM_017542.5

p.A406T

c.1216G>A

1 paper

NM_017542.5

p.N483K

c.1449C>A

1 paper

NM_017542.5

p.N483K

c.1449C>G

1 paper

NM_017542.5

p.R375W

c.1123C>T

1 paper

NM_017542.5

p.Y511*

c.1533C>A