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.H34N

c.100C>A

Surrounding Variants

1 paper

NM_002690.3

p.I33I

c.99C>A

1 paper

NM_002690.3

p.H34Q

c.102C>A

3 papers

NM_002690.3

p.I33S

c.98T>G

1 paper

NM_002690.3

p.K35Q

c.103A>C

3 papers

NM_002690.3

p.K35E

c.103A>G

2 papers

NM_002690.3

p.K35R

c.104A>G

1 paper

NM_002690.3

p.S30G

c.88A>G

1 paper

NM_002690.3

p.Y39H

c.115T>C

1 paper

NM_002690.3

p.Y39C

c.116A>G

1 paper

NM_002690.3

p.Y39*

c.117C>A

1 paper

NM_002690.3

p.Y39*

c.117C>G

1 paper

NM_002690.3

p.R40G

c.118A>G