Varaico: Literature-Extracted Genetic Variants

PALB2

2,283 papers

RefSeq Summary

This gene encodes a protein that may function in tumor suppression. This protein binds to and colocalizes with the breast cancer 2 early onset protein (BRCA2) in nuclear foci and likely permits the st...

Pfam Domains

PALB2_WD40aa 542–889UCSCPartner and localizer of BRCA2 WD40 domain

PALB2_WD40aa 1039–1105UCSCPartner and localizer of BRCA2 WD40 domain

Gene Aliases

HGNC Name

partner and localizer of BRCA2

HGNC Alias Symbols

FLJ21816; FANCN

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_024675.4

p.D219Y

c.655G>T

Surrounding Variants

2 papers

NM_024675.4

p.D219N

c.655G>A

8 papers

NM_024675.4

p.E218delFs

c.654delT

1 paper

NM_024675.4

p.N217_E218delFs

c.651_654del4

1 paper

NM_024675.4

p.N217_E218del2

c.649_653del6

3 papers

NM_024675.4

p.D219fs

c.655_656fs

17 papers

NM_024675.4

p.D219G

c.656A>G

1 paper

NM_024675.4

p.D219A

c.656A>C

2 papers

NM_024675.4

p.E218fs

c.652_653fs

1 paper

NM_024675.4

p.D219E

c.657C>G

1 paper

NM_024675.4

p.D219E

c.657C>A

2 papers

NM_024675.4

p.E218V

c.653A>T

2 papers

NM_024675.4

p.E218G

c.653A>G