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.M282I

c.846G>C

Surrounding Variants

1 paper

NM_002690.3

p.M282I

c.846G>A

1 paper

NM_002690.3

p.M282I

c.846G>T

7 papers

NM_002690.3

p.M282L

c.844A>C

1 paper

NM_002690.3

p.M282V

c.844A>G

7 papers

NM_002690.3

p.M282L

c.844A>T

11 papers

NM_002690.3

p.R283K

c.848G>A

1 paper

NM_002690.3

p.R283S

c.849G>C

1 paper

NM_002690.3

p.R283S

c.849G>T

1 paper

NM_002690.3

p.N281S

c.842A>G

1 paper

NM_002690.3

p.A284G

c.851C>G

1 paper

NM_002690.3

p.A284V

c.851C>T

2 papers

NM_002690.3

p.K280N

c.840G>C