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

11 papers

NM_002690.3

p.S229L

c.686C>T

Surrounding Variants

1 paper

NM_002690.3

p.S229P

c.685T>C

1 paper

NM_002690.3

p.K230R

c.689A>G

1 paper

NM_002690.3

p.L228R

c.683T>G

1 paper

NM_002690.3

p.K230N

c.690G>C

1 paper

NM_002690.3

p.K230N

c.690G>T

8 papers

NM_002690.3

p.G231D

c.692G>A

5 papers

NM_002690.3

p.E232K

c.694G>A

1 paper

NM_002690.3

p.T233A

c.697A>G

1 paper

NM_002690.3

p.T233I

c.698C>T

1 paper

NM_002690.3

p.K234N

c.702G>C

1 paper

NM_002690.3

p.K234N

c.702G>T

1 paper

NM_002690.3

p.F223L

c.669T>A