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

26 papers

NM_002690.3

p.L22P

c.65T>C

Surrounding Variants

2 papers

NM_002690.3

p.E21G

c.62A>G

1 paper

NM_002690.3

p.N24D

c.70A>G

1 paper

NM_002690.3

p.N24K

c.72C>A

1 paper

NM_002690.3

p.N24K

c.72C>G

1 paper

NM_002690.3

p.F25L

c.73T>C

1 paper

NM_002690.3

p.E21Splc

c.62-7C>T

1 paper

NM_002690.3

p.E26A

c.77A>C

2 papers

NM_002690.3

p.K27Q

c.79A>C

1 paper

NM_002690.3

p.K27E

c.79A>G

1 paper

NM_002690.3

p.K27R

c.80A>G

1 paper

NM_002690.3

p.K27K

c.81G>A

3 papers

NM_002690.3

p.K27N

c.81G>C