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.R594S

c.1782G>C

Surrounding Variants

1 paper

NM_024675.4

p.R594S

c.1782G>T

1 paper

NM_024675.4

p.D595fs

c.1783_1784fs

1 paper

NM_024675.4

p.D595Y

c.1783G>T

1 paper

NM_024675.4

p.D595H

c.1783G>C

1 paper

NM_024675.4

p.D595N

c.1783G>A

1 paper

NM_024675.4

p.D595A

c.1784A>C

4 papers

NM_024675.4

p.D595delFs

c.1783delC

3 papers

NM_024675.4

p.D595fs

c.1783_1784fs

1 paper

NM_024675.4

p.D595D

c.1785T>C

3 papers

NM_024675.4

p.D595delFs

c.1784delT

3 papers

NM_024675.4

p.G596*

c.1786G>T

1 paper

NM_024675.4

p.G596_M597insG

c.1786_1790ins3