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.R111C

c.331C>T

Surrounding Variants

1 paper

NM_006502.3

p.R111_A112del2

c.331_335del6

12 papers

NM_006502.3

p.R111H

c.332G>A

1 paper

NM_006502.3

p.A112G

c.335C>G

1 paper

NM_006502.3

p.I109I

c.327T>C

1 paper

NM_006502.3

p.A107_V108insFs

c.321_322insAA

1 paper

NM_006502.3

p.A107P

c.319G>C

1 paper

NM_006502.3

p.A107S

c.319G>T

3 papers

NM_006502.3

p.D115A

c.344A>C

3 papers

NM_006502.3

p.E116A

c.347A>C

5 papers

NM_006502.3

p.A117P

c.349G>C

1 paper

NM_006502.3

p.A117V

c.350C>T

3 papers

NM_006502.3

p.Y118insFs

c.353dupA