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.K131K

c.393G>A

Surrounding Variants

1 paper

NM_006502.3

p.E127A

c.380A>C

1 paper

NM_006502.3

p.E127G

c.380A>G

1 paper

NM_006502.3

p.P136S

c.406C>T

1 paper

NM_006502.3

p.E127fs

c.379_380fs

1 paper

NM_006502.3

p.E127_R128delFs

c.381_384del4

5 papers

NM_006502.3

p.Q126*

c.376C>T

1 paper

NM_006502.3

p.S138L

c.413C>T

1 paper

NM_006502.3

p.A124A

c.372T>G

1 paper

NM_006502.3

p.A139T

c.415G>A

1 paper

NM_006502.3

p.D140_L141delFs

c.420_421delCT

1 paper

NM_006502.3

p.T122I

c.365C>T

9 papers

NM_006502.3

p.T122P

c.364A>C