Varaico: Literature-Extracted Genetic Variants

POLH

339 papers

RefSeq Summary

This gene encodes a member of the Y family of specialized DNA polymerases. It copies undamaged DNA with a lower fidelity than other DNA-directed polymerases. However, it accurately replicates UV-damag...

Pfam Domains

IMSaa 12–228UCSCimpB/mucB/samB family

POLH-Rev1_HhHaa 250–305UCSCDNApol eta/Rev1, HhH motif

IMS_Caa 316–439UCSCimpB/mucB/samB family C-terminal domain

zf_UBZaa 631–662UCSCUbiquitin-Binding Zinc Finger

Gene Aliases

HGNC Name

DNA polymerase eta

HGNC Alias Symbols

RAD30A; XP-V

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006502.3

p.V673A

c.2018T>C

Surrounding Variants

2 papers

NM_006502.3

p.Q672_V673insT

c.2014_2018ins3

1 paper

NM_006502.3

p.Q672fs

c.2014_2015fs

3 papers

NM_006502.3

p.S675Y

c.2024C>A

1 paper

NM_006502.3

p.N670S

c.2009A>G

1 paper

NM_006502.3

p.Q672delFs

c.2014delC

1 paper

NM_006502.3

p.N670_P671insT

c.2008_2012ins3

1 paper

NM_006502.3

p.A676A

c.2028C>T

1 paper

NM_006502.3

p.S669S

c.2007A>G

1 paper

NM_006502.3

p.V677I

c.2029G>A

1 paper

NM_006502.3

p.V677V

c.2031A>T

1 paper

NM_006502.3

p.R683I

c.2048G>T

1 paper

NM_006502.3

p.L657L

c.1969T>C