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

2 papers

NM_024675.4

p.D123D

c.369C>T

Surrounding Variants

1 paper

NM_024675.4

p.D123E

c.369C>G

1 paper

NM_024675.4

p.D123E

c.369C>A

1 paper

NM_024675.4

p.T124S

c.370A>T

1 paper

NM_024675.4

p.D123V

c.368A>T

1 paper

NM_024675.4

p.T124A

c.370A>G

1 paper

NM_024675.4

p.D123G

c.368A>G

1 paper

NM_024675.4

p.T124P

c.370A>C

1 paper

NM_024675.4

p.D123A

c.368A>C

1 paper

NM_024675.4

p.T124_Q125insA

c.370_374ins3

1 paper

NM_024675.4

p.D123Y

c.367G>T

1 paper

NM_024675.4

p.D123H

c.367G>C

2 papers

NM_024675.4

p.D123N

c.367G>A