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.V99A

c.296T>C

Surrounding Variants

2 papers

NM_006502.3

p.V99M

c.295G>A

1 paper

NM_006502.3

p.E101Q

c.301G>C

1 paper

NM_006502.3

p.E101*

c.301G>T

1 paper

NM_006502.3

p.E101Fs

c.301delinsTTFs

1 paper

NM_006502.3

p.E101G

c.302A>G

1 paper

NM_006502.3

p.V97I

c.289G>A

1 paper

NM_006502.3

p.V97L

c.289G>C

1 paper

NM_006502.3

p.I102T

c.305T>C

1 paper

NM_006502.3

p.A95T

c.283G>A

4 papers

NM_006502.3

p.R93P

c.278G>C

1 paper

NM_006502.3

p.Y92C

c.275A>G

1 paper

NM_006502.3

p.A107P

c.319G>C