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

1 paper

NM_002690.3

p.G268D

c.803G>A

Surrounding Variants

2 papers

NM_002690.3

p.G268A

c.803G>C

5 papers

NM_002690.3

p.C267S

c.800G>C

4 papers

NM_002690.3

p.C267S

c.799T>A

1 paper

NM_002690.3

p.L270P

c.809T>C

2 papers

NM_002690.3

p.Y271H

c.811T>C

3 papers

NM_002690.3

p.Y271S

c.812A>C

31 papers

NM_002690.3

p.Y265C

c.794A>G

1 paper

NM_002690.3

p.Y271C

c.812A>G

3 papers

NM_002690.3

p.Y271F

c.812A>T

1 paper

NM_002690.3

p.Y265F

c.794A>T

8 papers

NM_002690.3

p.Y265H

c.793T>C

8 papers

NM_002690.3

p.F272L

c.814T>C