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.R254I

c.761G>T

Surrounding Variants

12 papers

NM_002690.3

p.D256A

c.767A>C

1 paper

NM_002690.3

p.H252Y

c.754C>T

4 papers

NM_002690.3

p.D256E

c.768T>A

4 papers

NM_002690.3

p.D256E

c.768T>G

1 paper

NM_002690.3

p.R258G

c.772A>G

1 paper

NM_002690.3

p.R258K

c.773G>A

8 papers

NM_002690.3

p.E249K

c.745G>A

2 papers

NM_002690.3

p.K248Q

c.742A>C

13 papers

NM_002690.3

p.D246V

c.737A>T

1 paper

NM_002690.3

p.S243I

c.728G>T

47 papers

NM_002690.3

p.P242R

c.725C>G

1 paper

NM_002690.3

p.P242L

c.725C>T