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

11 papers

NM_024675.4

p.L253fs

c.757_758fs

Surrounding Variants

1 paper

NM_024675.4

p.L253L

c.757C>T

1 paper

NM_024675.4

p.L253V

c.757C>G

1 paper

NM_024675.4

p.L253I

c.757C>A

1 paper

NM_024675.4

p.L253R

c.758T>G

3 papers

NM_024675.4

p.L253P

c.758T>C

1 paper

NM_024675.4

p.T252T

c.756T>A

1 paper

NM_024675.4

p.L250_Q251delFs

c.750_753del4

1 paper

NM_024675.4

p.T252I

c.755C>T

1 paper

NM_024675.4

p.T252S

c.755C>G

1 paper

NM_024675.4

p.L253L

c.759A>G

42 papers

NM_024675.4

p.L253insFs

c.758_759insT

1 paper

NM_024675.4

p.L253insFs

c.758_759insTT