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.G170S

c.508G>A

Surrounding Variants

3 papers

NM_006502.3

p.R167Q

c.500G>A

5 papers

NM_006502.3

p.R167*

c.499C>T

1 paper

NM_006502.3

p.Q173*

c.517C>T

2 papers

NM_006502.3

p.W174*

c.521G>A

1 paper

NM_006502.3

p.W174*

c.522G>A

4 papers

NM_006502.3

p.W174C

c.522G>C

5 papers

NM_006502.3

p.W174C

c.522G>T

4 papers

NM_006502.3

p.E164fs

c.490_491fs

1 paper

NM_006502.3

p.E164Splc

c.491-4T>G

1 paper

NM_006502.3

p.S177Y

c.530C>A

1 paper

NM_006502.3

p.L178fs

c.532_533fs

2 papers

NM_006502.3

p.L178V

c.532C>G