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.H222Q

c.666T>A

Surrounding Variants

1 paper

NM_002690.3

p.H222R

c.665A>G

1 paper

NM_002690.3

p.F223L

c.667T>C

1 paper

NM_002690.3

p.F223L

c.669T>A

1 paper

NM_002690.3

p.F223L

c.669T>G

1 paper

NM_002690.3

p.K220R

c.659A>G

1 paper

NM_002690.3

p.L228R

c.683T>G

2 papers

NM_002690.3

p.E216D

c.648G>C

1 paper

NM_002690.3

p.S229P

c.685T>C

11 papers

NM_002690.3

p.S229L

c.686C>T

4 papers

NM_002690.3

p.E216K

c.646G>A

1 paper

NM_002690.3

p.K230R

c.689A>G

1 paper

NM_002690.3

p.K230N

c.690G>C