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

4 papers

NM_024675.4

p.K515*

c.1543A>T

Surrounding Variants

1 paper

NM_024675.4

p.K515Q

c.1543A>C

20 papers

NM_024675.4

p.K515R

c.1544A>G

1 paper

NM_024675.4

p.G514G

c.1542A>G

1 paper

NM_024675.4

p.G514fs

c.1540_1541fs

1 paper

NM_024675.4

p.G514E

c.1541G>A

1 paper

NM_024675.4

p.K515N

c.1545A>T

1 paper

NM_024675.4

p.K515K

c.1545A>G

1 paper

NM_024675.4

p.K515N

c.1545A>C

1 paper

NM_024675.4

p.G514*

c.1540G>T

2 papers

NM_024675.4

p.T513insFs

c.1539dupA

7 papers

NM_024675.4

p.G514R

c.1540G>C

7 papers

NM_024675.4

p.G514R

c.1540G>A