Varaico: Literature-Extracted Genetic Variants

POLI

89 papers

RefSeq Summary

The protein encoded by this gene is an error-prone DNA polymerase involved in DNA repair. The encoded protein promotes DNA synthesis across lesions in the template DNA, which other polymerases cannot ...

Pfam Domains

IMSaa 1–133UCSCimpB/mucB/samB family

IMS_HHH_1aa 159–211UCSCDNA polymerase-iota, thumb domain

IMS_Caa 221–345UCSCimpB/mucB/samB family C-terminal domain

UBMaa 416–450UCSCUbiquitin binding region

UBMaa 597–631UCSCUbiquitin binding region

Gene Aliases

HGNC Name

DNA polymerase iota

HGNC Previous Symbols

RAD3OB; RAD30B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007195.3

p.K345E

c.1033A>G

Surrounding Variants

1 paper

NM_007195.3

p.E341K

c.1021G>A

1 paper

NM_007195.3

p.E330A

c.989A>C

1 paper

NM_007195.3

p.P323S

c.967C>T

1 paper

NM_007195.3

p.D314G

c.941A>G

1 paper

NM_007195.3

p.D285G

c.854A>G

1 paper

NM_001351632.2

p.E251V

c.752A>T

2 papers

NM_007195.3

p.E276K

c.826G>A

NM_001351632.2

p.E251K

c.751G>A

1 paper

NM_007195.3

p.G266Splc

c.796+33G>A

1 paper

NM_007195.3

p.K262K

c.786G>A

5 papers

NM_007195.3

p.I261M

c.783A>G

NM_001351632.2

p.I236M

c.708A>G

1 paper

NM_007195.3

p.H260L

c.779A>T

1 paper

NM_007195.3

p.P248L

c.743C>T