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.A29A

c.87G>A

Surrounding Variants

1 paper

NM_007195.3

p.D30fs

c.88_89fs

1 paper

NM_007195.3

p.M26T

c.77T>C

1 paper

NM_001351632.2

p.A9E

c.26C>A

1 paper

NM_007195.3

p.S37A

c.109T>G

2 papers

NM_007195.3

p.D16Y

c.46G>T

2 papers

NM_007195.3

p.D15G

c.44A>G

7 papers

NM_007195.3

p.D17_E18del1

c.51_53delCGA

1 paper

NM_007195.3

p.G14S

c.40G>A

3 papers

NM_007195.3

p.G14_D15del2

c.40_44del6

1 paper

NM_007195.3

p.G14_D15del1

c.41_43delGCG

2 papers

NM_007195.3

p.E9*

c.25G>T

1 paper

NM_007195.3

p.V6G

c.17T>G