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.Q211R

c.632A>G

Surrounding Variants

1 paper

NM_006502.3

p.C212R

c.634T>C

4 papers

NM_006502.3

p.S213*

c.638C>A

1 paper

NM_006502.3

p.S213*

c.638C>G

10 papers

NM_006502.3

p.G209V

c.626G>T

1 paper

NM_006502.3

p.A214G

c.641C>G

1 paper

NM_006502.3

p.E207A

c.620A>C

1 paper

NM_006502.3

p.S217A

c.649T>G

1 paper

NM_006502.3

p.H218N

c.652C>A

4 papers

NM_006502.3

p.K220E

c.658A>G

1 paper

NM_006502.3

p.A202A

c.606A>G

1 paper

NM_006502.3

p.A202A

c.606A>T

1 paper

NM_006502.3

p.A202_A203delFs

c.606_607delAG