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

30 papers

NM_002690.3

p.R137Q

c.410G>A

Surrounding Variants

1 paper

NM_002690.3

p.R137G

c.409C>G

2 papers

NM_002690.3

p.Q136*

c.406C>T

1 paper

NM_002690.3

p.G139E

c.416G>A

1 paper

NM_002690.3

p.H135Y

c.403C>T

1 paper

NM_002690.3

p.H134Y

c.400C>T

1 paper

NM_002690.3

p.K141Splc

c.422+1G>A

1 paper

NM_002690.3

p.K131R

c.392A>G

1 paper

NM_002690.3

p.E129A

c.386A>C

1 paper

NM_002690.3

p.E129Q

c.385G>C

1 paper

NM_002690.3

p.N128N

c.384T>C

1 paper

NM_002690.3

p.K127K

c.381A>G

1 paper

NM_002690.3

p.K127R

c.380A>G