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.C868G

c.2602T>G

Surrounding Variants

1 paper

NM_024675.4

p.C868R

c.2602T>C

1 paper

NM_024675.4

p.C868S

c.2602T>A

1 paper

NM_024675.4

p.C868fs

c.2602_2603fs

1 paper

NM_024675.4

p.C868F

c.2603G>T

1 paper

NM_024675.4

p.C868S

c.2603G>C

1 paper

NM_024675.4

p.C868Y

c.2603G>A

3 papers

NM_024675.4

p.S867S

c.2601C>T

1 paper

NM_024675.4

p.C868W

c.2604T>G

1 paper

NM_024675.4

p.C868C

c.2604T>C

1 paper

NM_024675.4

p.C868*

c.2604T>A

1 paper

NM_024675.4

p.C868delFs

c.2603delC

1 paper

NM_024675.4

p.S867F

c.2600C>T