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.K231N

c.693G>C

Surrounding Variants

1 paper

NM_006502.3

p.K231N

c.693G>T

1 paper

NM_006502.3

p.N233T

c.698A>C

6 papers

NM_006502.3

p.N233S

c.698A>G

1 paper

NM_006502.3

p.Q235R

c.704A>G

2 papers

NM_006502.3

p.G228*

c.682G>T

1 paper

NM_006502.3

p.C227W

c.681T>G

1 paper

NM_006502.3

p.G228_L229del2

c.682_686del6

1 paper

NM_006502.3

p.T236S

c.706A>T

1 paper

NM_006502.3

p.C227Y

c.680G>A

1 paper

NM_006502.3

p.A226A

c.678C>T

1 paper

NM_006502.3

p.A226S

c.676G>T

2 papers

NM_006502.3

p.L225fs

c.673_674fs