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.M597delFs

c.1789delT

Surrounding Variants

2 papers

NM_024675.4

p.M597fs

c.1789_1790fs

1 paper

NM_024675.4

p.M597delFs

c.1790delA

1 paper

NM_024675.4

p.M597fs

c.1789_1790fs

1 paper

NM_024675.4

p.M597_L598ins4

c.1789_1793ins12

1 paper

NM_024675.4

p.G596del1

c.1786_1788delTCC

1 paper

NM_024675.4

p.L598L

c.1792C>T

1 paper

NM_024675.4

p.L598V

c.1792C>G

1 paper

NM_024675.4

p.G596A

c.1787G>C

1 paper

NM_024675.4

p.G596E

c.1787G>A

3 papers

NM_024675.4

p.G596*

c.1786G>T

1 paper

NM_024675.4

p.G596_M597insG

c.1786_1790ins3

1 paper

NM_024675.4

p.L598L

c.1794G>A