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.L598L

c.1794G>A

Surrounding Variants

1 paper

NM_024675.4

p.S599_L600insA

c.1795_1799ins3

1 paper

NM_024675.4

p.S599delFs

c.1795delT

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.S599S

c.1797T>C

2 papers

NM_024675.4

p.M597fs

c.1789_1790fs

1 paper

NM_024675.4

p.M597delFs

c.1790delA

4 papers

NM_024675.4

p.M597delFs

c.1789delT

1 paper

NM_024675.4

p.L600*

c.1799T>G

1 paper

NM_024675.4

p.L600*

c.1799T>A

1 paper

NM_024675.4

p.M597fs

c.1789_1790fs

1 paper

NM_024675.4

p.M597_L598ins4

c.1789_1793ins12