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.E529Q

c.1585G>C

Surrounding Variants

1 paper

NM_006502.3

p.E529A

c.1586A>C

1 paper

NM_006502.3

p.T528S

c.1583C>G

1 paper

NM_006502.3

p.G527R

c.1579G>C

1 paper

NM_006502.3

p.Q524H

c.1572A>C

1 paper

NM_006502.3

p.Q524H

c.1572A>T

2 papers

NM_006502.3

p.Q534delFs

c.1600_1601delCA

1 paper

NM_006502.3

p.Q524E

c.1570C>G

2 papers

NM_006502.3

p.Q534fs

c.1600_1601fs

2 papers

NM_006502.3

p.K535_L537delFs

c.1603_1610del8

22 papers

NM_006502.3

p.K535E

c.1603A>G

NM_001291969.2

p.K411E

c.1231A>G

2 papers

NM_006502.3

p.K535fs

c.1603_1604fs

3 papers

NM_006502.3

p.S523_Q524delFs

c.1568_1571del4