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

2 papers

NM_024675.4

p.L531*

c.1592T>A

Surrounding Variants

1 paper

NM_024675.4

p.L531L

c.1591T>C

1 paper

NM_024675.4

p.L531insFs

c.1592dupT

30 papers

NM_024675.4

p.L531fs

c.1591_1592fs

158 papers

NM_024675.4

p.L531delFs

c.1592delA

24 papers

NM_024675.4

p.L531fs

c.1591_1592fs

1 paper

NM_024675.4

p.P532S

c.1594C>T

1 paper

NM_024675.4

p.P532T

c.1594C>A

1 paper

NM_024675.4

p.L531_P532delins

c.1593_1594delinsAA

1 paper

NM_024675.4

p.L531_P532Fs

c.1592_1594delinsGGFs

3 papers

NM_024675.4

p.L530P

c.1589T>C

1 paper

NM_024675.4

p.P532L

c.1595C>T

1 paper

NM_024675.4

p.L530F

c.1588C>T