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.A202A

c.606A>G

Surrounding Variants

1 paper

NM_006502.3

p.A202A

c.606A>T

1 paper

NM_006502.3

p.A202_A203delFs

c.606_607delAG

2 papers

NM_006502.3

p.R201G

c.601A>G

1 paper

NM_006502.3

p.M200_R201delFs

c.600_601delGA

1 paper

NM_006502.3

p.M200fs

c.598_599fs

1 paper

NM_006502.3

p.E199K

c.595G>A

1 paper

NM_006502.3

p.E198A

c.593A>C

1 paper

NM_006502.3

p.E207A

c.620A>C

1 paper

NM_006502.3

p.V197M

c.589G>A

1 paper

NM_006502.3

p.I196I

c.588T>C

10 papers

NM_006502.3

p.G209V

c.626G>T

1 paper

NM_006502.3

p.V195_I196del0

c.583_588del6