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

3 papers

NM_006502.3

p.K224fs

c.670_671fs

Surrounding Variants

1 paper

NM_006502.3

p.K224insFs

c.670_671insT

1 paper

NM_006502.3

p.A223A

c.669A>C

2 papers

NM_006502.3

p.K224_L225insFs

c.672_673insT

1 paper

NM_006502.3

p.L225_C227del3

c.673_680del9

3 papers

NM_006502.3

p.K224delFs

c.672delA

2 papers

NM_006502.3

p.L225fs

c.673_674fs

1 paper

NM_006502.3

p.L225fs

c.673_674fs

1 paper

NM_006502.3

p.A223T

c.667G>A

1 paper

NM_006502.3

p.L222L

c.666G>A

1 paper

NM_006502.3

p.A226S

c.676G>T

1 paper

NM_006502.3

p.A226A

c.678C>T

2 papers

NM_006502.3

p.V221L

c.661G>C