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.K443R

c.1328A>G

Surrounding Variants

3 papers

NM_024675.4

p.K443*

c.1327A>T

1 paper

NM_024675.4

p.N442fs

c.1324_1325fs

1 paper

NM_024675.4

p.N442insFs

c.1325dupA

3 papers

NM_024675.4

p.N442K

c.1326T>G

1 paper

NM_024675.4

p.N442N

c.1326T>C

3 papers

NM_024675.4

p.N442K

c.1326T>A

1 paper

NM_024675.4

p.N442delFs

c.1325delT

1 paper

NM_024675.4

p.N444I

c.1331A>T

1 paper

NM_024675.4

p.N442I

c.1325A>T

1 paper

NM_024675.4

p.N444S

c.1331A>G

1 paper

NM_024675.4

p.N444N

c.1332T>C

1 paper

NM_024675.4

p.K441N

c.1323A>T