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.F291L

c.873C>G

Surrounding Variants

1 paper

NM_002690.3

p.F291L

c.873C>A

4 papers

NM_002690.3

p.T292A

c.874A>G

1 paper

NM_002690.3

p.T292I

c.875C>T

1 paper

NM_002690.3

p.F291L

c.871T>C

1 paper

NM_002690.3

p.G290D

c.869G>A

1 paper

NM_002690.3

p.G290C

c.868G>T

1 paper

NM_002690.3

p.N294D

c.880A>G

34 papers

NM_002690.3

p.K289M

c.866A>T

41 papers

NM_002690.3

p.E295K

c.883G>A

5 papers

NM_002690.3

p.E295A

c.884A>C

16 papers

NM_002690.3

p.E288K

c.862G>A

1 paper

NM_002690.3

p.Y296D

c.886T>G