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.F290S

c.869T>C

Surrounding Variants

1 paper

NM_006502.3

p.F290L

c.870T>A

1 paper

NM_006502.3

p.F290L

c.868T>C

1 paper

NM_006502.3

p.F290L

c.870T>G

1 paper

NM_006502.3

p.G291A

c.872G>C

1 paper

NM_006502.3

p.E292_K293del1

c.875_877delAGA

1 paper

NM_006502.3

p.S288C

c.862A>T

7 papers

NM_006502.3

p.G295R

c.883G>A

6 papers

NM_006502.3

p.G295R

c.883G>C

1 paper

NM_006502.3

p.G295E

c.884G>A

1 paper

NM_006502.3

p.S284F

c.851C>T

2 papers

NM_006502.3

p.E283_S284delFs

c.849_852del4

1 paper

NM_006502.3

p.L278P

c.833T>C