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.Q524E

c.1570C>G

Surrounding Variants

1 paper

NM_006502.3

p.Q524H

c.1572A>C

1 paper

NM_006502.3

p.Q524H

c.1572A>T

3 papers

NM_006502.3

p.S523_Q524delFs

c.1568_1571del4

6 papers

NM_006502.3

p.Q521*

c.1561C>T

1 paper

NM_006502.3

p.G527R

c.1579G>C

1 paper

NM_006502.3

p.F520C

c.1559T>G

1 paper

NM_006502.3

p.T528S

c.1583C>G

1 paper

NM_006502.3

p.E529Q

c.1585G>C

1 paper

NM_006502.3

p.E529A

c.1586A>C

1 paper

NM_006502.3

p.S517A

c.1549T>G

1 paper

NM_006502.3

p.S517insFs

c.1549_1550ins5

1 paper

NM_006502.3

p.P516T

c.1546C>A