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

1–12 of 494 variants

22 papers

NM_006502.3

p.K535E

c.1603A>G

17 papers

NM_006502.3

p.E164*

c.490G>T

16 papers

NM_006502.3

p.T692A

c.2074A>G

15 papers

NM_006502.3

p.R303*

c.907C>T

13 papers

NM_006502.3

p.R356*

c.1066C>T

12 papers

NM_006502.3

p.R111H

c.332G>A

11 papers

NM_006502.3

p.S242*

c.725C>G

11 papers

NM_006502.3

p.I255Splc

c.764+1G>A

11 papers

NM_006502.3

p.G263V

c.788G>T

11 papers

NM_006502.3

p.M595V

c.1783A>G

10 papers

NM_006502.3

p.G209V

c.626G>T

10 papers

NM_006502.3

p.T478M

c.1433C>T