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.G274R

c.820G>A

Surrounding Variants

1 paper

NM_002690.3

p.G274R

c.820G>C

1 paper

NM_002690.3

p.G274V

c.821G>T

1 paper

NM_002690.3

p.S275R

c.823A>C

8 papers

NM_002690.3

p.F272L

c.816C>A

8 papers

NM_002690.3

p.F272L

c.816C>G

1 paper

NM_002690.3

p.S275N

c.824G>A

1 paper

NM_002690.3

p.S275R

c.825T>A

1 paper

NM_002690.3

p.S275R

c.825T>G

8 papers

NM_002690.3

p.F272L

c.814T>C

6 papers

NM_002690.3

p.D276V

c.827A>T

3 papers

NM_002690.3

p.Y271S

c.812A>C

1 paper

NM_002690.3

p.Y271C

c.812A>G