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

17 papers

NM_006502.3

p.E164*

c.490G>T

Surrounding Variants

1 paper

NM_006502.3

p.E164delFs

c.490delG

1 paper

NM_006502.3

p.E164Splc

c.490+1G>T

4 papers

NM_006502.3

p.K163R

c.488A>G

1 paper

NM_006502.3

p.E164Splc

c.490+3A>G

1 paper

NM_006502.3

p.A157ins6

c.469_470ins18

1 paper

NM_006502.3

p.T156A

c.466A>G

1 paper

NM_006502.3

p.T155A

c.463A>G

1 paper

NM_006502.3

p.P154P

c.462T>C

1 paper

NM_006502.3

p.P154S

c.460C>T

2 papers

NM_006502.3

p.G153D

c.458G>A

3 papers

NM_006502.3

p.Q152*

c.454C>T

1 paper

NM_006502.3

p.P151T

c.451C>A