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.E335Fs

c.1003delinsGAFs

Surrounding Variants

1 paper

NM_006502.3

p.E335Q

c.1003G>C

1 paper

NM_006502.3

p.R334R

c.1000C>A

2 papers

NM_006502.3

p.R334G

c.1000C>G

2 papers

NM_006502.3

p.R334W

c.1000C>T

1 paper

NM_006502.3

p.A332fs

c.994_995fs

1 paper

NM_006502.3

p.A330delFs

c.990delT

6 papers

NM_006502.3

p.T329I

c.986C>T

1 paper

NM_006502.3

p.T329fs

c.985_986fs

1 paper

NM_006502.3

p.T329delFs

c.985delA

1 paper

NM_006502.3

p.P326delFs

c.978delA

1 paper

NM_006502.3

p.P326fs

c.976_977fs

1 paper

NM_006502.3

p.S322N

c.965G>A