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.S896C

c.2687C>G

Surrounding Variants

4 papers

NM_024675.4

p.S896F

c.2687C>T

4 papers

NM_024675.4

p.S896insFs

c.2686_2687insT

1 paper

NM_024675.4

p.S896Y

c.2687C>A

1 paper

NM_024675.4

p.S896delFs

c.2686delA

1 paper

NM_024675.4

p.S896fs

c.2686_2687fs

1 paper

NM_024675.4

p.S896_L897insG

c.2686_2690ins3

1 paper

NM_024675.4

p.S896insFs

c.2686_2687insA

1 paper

NM_024675.4

p.S896A

c.2686T>G

1 paper

NM_024675.4

p.S896P

c.2686T>C

1 paper

NM_024675.4

p.S896T

c.2686T>A

1 paper

NM_024675.4

p.S896fs

c.2686_2687fs

2 papers

NM_024675.4

p.L897F

c.2689C>T