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.A652S

c.1954G>T

Surrounding Variants

1 paper

NM_007195.3

p.E632*

c.1894G>T

1 paper

NM_007195.3

p.T673A

c.2017A>G

1 paper

NM_007195.3

p.D684D

c.2052C>T

1 paper

NM_007195.3

p.P602T

c.1804C>A

1 paper

NM_007195.3

p.C600fs

c.1798_1799fs

1 paper

NM_007195.3

p.C600delFs

c.1799delG

6 papers

NM_007195.3

p.A731T

c.2191G>A

1 paper

NM_007195.3

p.Q540E

c.1618C>G

6 papers

NM_007195.3

p.F532S

c.1595T>C

NM_001351632.2

p.F507S

c.1520T>C

1 paper

NM_007195.3

p.L520L

c.1560C>T

1 paper

NM_007195.3

p.D514D

c.1542C>T

1 paper

NM_007195.3

p.D514G

c.1541A>G