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.P576S

c.1726C>T

Surrounding Variants

2 papers

NM_006502.3

p.P576delFs

c.1727_1728delCT

3 papers

NM_006502.3

p.P576fs

c.1726_1727fs

1 paper

NM_006502.3

p.V575fs

c.1723_1724fs

1 paper

NM_006502.3

p.V575insFs

c.1723dupG

1 paper

NM_006502.3

p.C574S

c.1721G>C

1 paper

NM_006502.3

p.E579E

c.1737A>G

1 paper

NM_006502.3

p.G580E

c.1739G>A

2 papers

NM_006502.3

p.G580A

c.1739G>C

1 paper

NM_006502.3

p.E570A

c.1709A>C

2 papers

NM_006502.3

p.S582L

c.1745C>T

1 paper

NM_006502.3

p.K583_S588del6

c.1747_1763del18

1 paper

NM_006502.3

p.T569fs

c.1705_1706fs