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.R695H

c.2084G>A

Surrounding Variants

1 paper

NM_006502.3

p.R695R

c.2085C>G

1 paper

NM_006502.3

p.R695C

c.2083C>T

1 paper

NM_006502.3

p.P696R

c.2087C>G

17 papers

NM_006502.3

p.T692A

c.2074A>G

NM_001291969.2

p.T568A

c.1702A>G

1 paper

NM_006502.3

p.C691fs

c.2071_2072fs

1 paper

NM_006502.3

p.A690delFs

c.2070delC

1 paper

NM_006502.3

p.L704fs

c.2110_2111fs

1 paper

NM_006502.3

p.E705K

c.2113G>A

1 paper

NM_006502.3

p.E705Q

c.2113G>C

1 paper

NM_006502.3

p.R683I

c.2048G>T

1 paper

NM_006502.3

p.P710insFs

c.2130dupA

1 paper

NM_006502.3

p.L711fs

c.2131_2132fs