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.N600_S601del2

c.1798_1802del6

Surrounding Variants

1 paper

NM_006502.3

p.H599Y

c.1795C>T

1 paper

NM_006502.3

p.L597M

c.1789T>A

1 paper

NM_006502.3

p.S603T

c.1808G>C

1 paper

NM_006502.3

p.M595R

c.1784T>G

11 papers

NM_006502.3

p.M595V

c.1783A>G

1 paper

NM_006502.3

p.E594Q

c.1780G>C

1 paper

NM_006502.3

p.A606_S607del2

c.1816_1820del6

1 paper

NM_006502.3

p.A606T

c.1816G>A

1 paper

NM_006502.3

p.P592P

c.1776T>G

1 paper

NM_006502.3

p.A606G

c.1817C>G

1 paper

NM_006502.3

p.T591fs

c.1771_1772fs

10 papers

NM_006502.3

p.K589T

c.1766A>C