Varaico: Literature-Extracted Genetic Variants

POLB

394 papers

RefSeq Summary

The protein encoded by this gene is a DNA polymerase involved in base excision and repair, also called gap-filling DNA synthesis. The encoded protein, acting as a monomer, is normally found in the cyt...

Pfam Domains

HHH_8aa 11–82UCSCHelix-hairpin-helix domain

DNA_pol_lambd_faa 98–147UCSCFingers domain of DNA polymerase lambda

DNA_pol_B_palmaa 149–262UCSCDNA polymerase beta palm

DNA_pol_B_thumbaa 268–334UCSCDNA polymerase beta thumb

Gene Aliases

HGNC Name

DNA polymerase beta

HGNC Previous Names

polymerase (DNA directed), beta; polymerase (DNA) beta

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

14 papers

NM_002690.3

p.D160N

c.478G>A

Surrounding Variants

3 papers

NM_002690.3

p.D160G

c.479A>G

4 papers

NM_002690.3

p.K167I

c.500A>T

1 paper

NM_002690.3

p.Y173H

c.517T>C

1 paper

NM_002690.3

p.I174N

c.521T>A

1 paper

NM_002690.3

p.I174T

c.521T>C

3 papers

NM_002690.3

p.I174S

c.521T>G

2 papers

NM_002690.3

p.A175T

c.523G>A

1 paper

NM_002690.3

p.T176I

c.527C>T

1 paper

NM_002690.3

p.T176T

c.528A>G

1 paper

NM_002690.3

p.G179R

c.535G>C

1 paper

NM_002690.3

p.S180R

c.538A>C

1 paper

NM_002690.3

p.S180R

c.540T>A