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

1–12 of 364 variants

47 papers

NM_002690.3

p.P242R

c.725C>G

41 papers

NM_002690.3

p.E295K

c.883G>A

38 papers

NM_002690.3

p.I260M

c.780A>G

34 papers

NM_002690.3

p.K289M

c.866A>T

31 papers

NM_002690.3

p.Y265C

c.794A>G

30 papers

NM_002690.3

p.R137Q

c.410G>A

26 papers

NM_002690.3

p.L22P

c.65T>C

16 papers

NM_002690.3

p.E288K

c.862G>A

14 papers

NM_002690.3

p.D160N

c.478G>A

13 papers

NM_002690.3

p.D246V

c.737A>T

12 papers

NM_002690.3

p.D256A

c.767A>C

11 papers

NM_002690.3

p.S229L

c.686C>T