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.P522insFs

c.1565dupC

Surrounding Variants

1 paper

NM_024675.4

p.P522fs

c.1564_1565fs

2 papers

NM_024675.4

p.P522delFs

c.1565delG

1 paper

NM_024675.4

p.P522delFs

c.1564_1565delGG

2 papers

NM_024675.4

p.P522S

c.1564C>T

2 papers

NM_024675.4

p.T521T

c.1563C>T

1 paper

NM_024675.4

p.T521T

c.1563C>G

1 paper

NM_024675.4

p.A523A

c.1569A>T

1 paper

NM_024675.4

p.A523A

c.1569A>G

1 paper

NM_024675.4

p.P522_A523del2

c.1564_1568del6

2 papers

NM_024675.4

p.T521I

c.1562C>T

9 papers

NM_024675.4

p.S524*

c.1571C>G

5 papers

NM_024675.4

p.S524*

c.1571C>A