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.T145I

c.434C>T

Surrounding Variants

4 papers

NM_006502.3

p.Y146insFs

c.437dupA

1 paper

NM_006502.3

p.S144T

c.431G>C

4 papers

NM_006502.3

p.Y146*

c.438C>A

4 papers

NM_006502.3

p.Y146*

c.438C>G

3 papers

NM_006502.3

p.I147N

c.440T>A

1 paper

NM_006502.3

p.G149R

c.445G>A

1 paper

NM_006502.3

p.D140_L141delFs

c.420_421delCT

1 paper

NM_006502.3

p.P151T

c.451C>A

1 paper

NM_006502.3

p.P151S

c.451C>T

1 paper

NM_006502.3

p.A139T

c.415G>A

3 papers

NM_006502.3

p.Q152*

c.454C>T

1 paper

NM_006502.3

p.S138L

c.413C>T