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.S299F

c.896C>T

Surrounding Variants

2 papers

NM_024675.4

p.S299C

c.896C>G

1 paper

NM_024675.4

p.S299insFs

c.896_897insG

1 paper

NM_024675.4

p.M296_V298delFs

c.887_894del8

1 paper

NM_024675.4

p.S299S

c.897T>C

1 paper

NM_024675.4

p.S299P

c.895T>C

1 paper

NM_024675.4

p.S299T

c.895T>A

1 paper

NM_024675.4

p.V298V

c.894C>T

1 paper

NM_024675.4

p.V298V

c.894C>A

2 papers

NM_024675.4

p.V298delFs

c.892_893delAC

1 paper

NM_024675.4

p.T300A

c.898A>G

1 paper

NM_024675.4

p.S299delFs

c.895_896delGA

2 papers

NM_024675.4

p.V298A

c.893T>C