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.S243I

c.728G>T

Surrounding Variants

47 papers

NM_002690.3

p.P242R

c.725C>G

1 paper

NM_002690.3

p.P242L

c.725C>T

1 paper

NM_002690.3

p.L241F

c.721C>T

1 paper

NM_002690.3

p.Q240Q

c.720G>A

1 paper

NM_002690.3

p.Q240R

c.719A>G

13 papers

NM_002690.3

p.D246V

c.737A>T

4 papers

NM_002690.3

p.C239S

c.716G>C

4 papers

NM_002690.3

p.C239S

c.715T>A

3 papers

NM_002690.3

p.C239R

c.715T>C

2 papers

NM_002690.3

p.K248Q

c.742A>C

8 papers

NM_002690.3

p.E249K

c.745G>A

1 paper

NM_002690.3

p.H252Y

c.754C>T