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.L920I

c.2758T>A

Surrounding Variants

1 paper

NM_024675.4

p.L920V

c.2758T>G

1 paper

NM_024675.4

p.L920*

c.2759T>G

2 papers

NM_024675.4

p.L920S

c.2759T>C

1 paper

NM_024675.4

p.L920*

c.2759T>A

1 paper

NM_024675.4

p.V919V

c.2757A>G

2 papers

NM_024675.4

p.V919G

c.2756T>G

2 papers

NM_024675.4

p.V919A

c.2756T>C

1 paper

NM_024675.4

p.V919E

c.2756T>A

1 paper

NM_024675.4

p.V917_V919delFs

c.2749_2755del7

1 paper

NM_024675.4

p.L920F

c.2760A>T

1 paper

NM_024675.4

p.L920F

c.2760A>C

2 papers

NM_024675.4

p.V919L

c.2755G>T