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.F423L

c.1267T>C

Surrounding Variants

1 paper

NM_006502.3

p.F423L

c.1269C>A

1 paper

NM_006502.3

p.F423L

c.1269C>G

1 paper

NM_006502.3

p.F423F

c.1269C>T

1 paper

NM_006502.3

p.L424F

c.1270C>T

1 paper

NM_006502.3

p.C425S

c.1273T>A

1 paper

NM_006502.3

p.T420_M421del2

c.1258_1262del6

2 papers

NM_006502.3

p.L419F

c.1255C>T

1 paper

NM_006502.3

p.K428R

c.1283A>G

1 paper

NM_006502.3

p.K428_S435delFs

c.1284_1303del20

1 paper

NM_006502.3

p.F429C

c.1286T>G

1 paper

NM_006502.3

p.S416_P417insFs

c.1248_1249ins5

2 papers

NM_006502.3

p.P418del1

c.1252_1253delCCT