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

2 papers

NM_006502.3

p.S548delFs

c.1643_1644delCA

Surrounding Variants

1 paper

NM_006502.3

p.S548fs

c.1642_1643fs

1 paper

NM_006502.3

p.S548*

c.1643C>A

1 paper

NM_006502.3

p.S548*

c.1643C>G

1 paper

NM_006502.3

p.V549A

c.1646T>C

1 paper

NM_006502.3

p.N546S

c.1637A>G

1 paper

NM_006502.3

p.S550F

c.1649C>T

2 papers

NM_006502.3

p.S551Y

c.1652C>A

1 paper

NM_006502.3

p.L544I

c.1630C>A

1 paper

NM_006502.3

p.P552_N559delFs

c.1656_1675del20

1 paper

NM_006502.3

p.Q553fs

c.1657_1658fs

1 paper

NM_006502.3

p.N555delFs

c.1664delA

1 paper

NM_006502.3

p.K540_Q541insFs

c.1620_1621ins5