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

11 papers

NM_006502.3

p.G263V

c.788G>T

Surrounding Variants

1 paper

NM_006502.3

p.G263A

c.788G>C

4 papers

NM_006502.3

p.A264P

c.790G>C

1 paper

NM_006502.3

p.A264V

c.791C>T

1 paper

NM_006502.3

p.A264_S265delFs

c.792_793delCT

1 paper

NM_006502.3

p.L262P

c.785T>C

1 paper

NM_006502.3

p.S265fs

c.793_794fs

1 paper

NM_006502.3

p.S265F

c.794C>T

1 paper

NM_006502.3

p.K261E

c.781A>G

3 papers

NM_006502.3

p.V266D

c.797T>A

1 paper

NM_006502.3

p.G259R

c.775G>A

1 paper

NM_006502.3

p.G259R

c.775G>C

1 paper

NM_006502.3

p.L270L

c.808C>T