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

1–12 of 82 variants

7 papers

NM_007195.3

p.D17_E18del1

c.51_53delCGA

6 papers

NM_007195.3

p.A731T

c.2191G>A

5 papers

NM_007195.3

p.F532S

c.1595T>C

4 papers

NM_007195.3

p.I261M

c.783A>G

3 papers

NM_007195.3

p.G5delFs

c.14_15delGG

3 papers

NM_007195.3

p.G14_D15del2

c.40_44del6

2 papers

NM_007195.3

p.E9*

c.25G>T

2 papers

NM_007195.3

p.D15G

c.44A>G

2 papers

NM_007195.3

p.D16Y

c.46G>T

2 papers

NM_007195.3

p.D42_V44del3

c.124_131del9

2 papers

NM_007195.3

p.R96G

c.286A>G

2 papers

NM_007195.3

p.R209Q

c.626G>A