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.M651K

c.1952T>A

Surrounding Variants

1 paper

NM_006502.3

p.M651_D652del1

c.1953_1955delGGA

9 papers

NM_006502.3

p.D652A

c.1955A>C

1 paper

NM_006502.3

p.E649K

c.1945G>A

7 papers

NM_006502.3

p.M647L

c.1939A>C

8 papers

NM_006502.3

p.M647L

c.1939A>T

1 paper

NM_006502.3

p.A656V

c.1967C>T

1 paper

NM_006502.3

p.L657L

c.1969T>C

1 paper

NM_006502.3

p.L641L

c.1921C>T

1 paper

NM_006502.3

p.G639C

c.1915G>T

1 paper

NM_006502.3

p.S669S

c.2007A>G

1 paper

NM_006502.3

p.N670_P671insT

c.2008_2012ins3

1 paper

NM_006502.3

p.N670S

c.2009A>G