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

2 papers

NM_006502.3

p.Y299*

c.897T>G

Surrounding Variants

2 papers

NM_006502.3

p.Y299*

c.897T>A

1 paper

NM_006502.3

p.L298L

c.892C>T

7 papers

NM_006502.3

p.W297*

c.891G>A

8 papers

NM_006502.3

p.W297*

c.890G>A

15 papers

NM_006502.3

p.R303*

c.907C>T

1 paper

NM_006502.3

p.S296F

c.887C>T

9 papers

NM_006502.3

p.E306*

c.916G>T

1 paper

NM_006502.3

p.H307insFs

c.920dupA

1 paper

NM_006502.3

p.H307fs

c.919_920fs

1 paper

NM_006502.3

p.P309S

c.925C>T

1 paper

NM_006502.3

p.P309P

c.927A>G

1 paper

NM_006502.3

p.V310G

c.929T>G