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.L246L

c.738C>T

Surrounding Variants

1 paper

NM_006502.3

p.F247fs

c.739_740fs

1 paper

NM_006502.3

p.L246delFs

c.738delC

1 paper

NM_006502.3

p.L246I

c.736C>A

1 paper

NM_006502.3

p.S248G

c.742A>G

1 paper

NM_006502.3

p.Q245*

c.733C>T

1 paper

NM_006502.3

p.V243V

c.729C>A

7 papers

NM_006502.3

p.S242*

c.725C>A

11 papers

NM_006502.3

p.S242*

c.725C>G

1 paper

NM_006502.3

p.S242P

c.724T>C

1 paper

NM_006502.3

p.G241E

c.722G>A

2 papers

NM_006502.3

p.G241_I255del0

c.723_764del42

2 papers

NM_006502.3

p.R253C

c.757C>T