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.L708F

c.2124A>T

Surrounding Variants

1 paper

NM_024675.4

p.L708F

c.2124A>C

2 papers

NM_024675.4

p.L708*

c.2123T>G

2 papers

NM_024675.4

p.L708*

c.2123T>A

2 papers

NM_024675.4

p.P707fs

c.2119_2120fs

1 paper

NM_024675.4

p.N709insFs

c.2125_2126insA

2 papers

NM_024675.4

p.N709K

c.2127T>G

1 paper

NM_024675.4

p.N709N

c.2127T>C

2 papers

NM_024675.4

p.N709K

c.2127T>A

5 papers

NM_024675.4

p.P707delFs

c.2120delG

1 paper

NM_024675.4

p.T710fs

c.2128_2129fs

3 papers

NM_024675.4

p.P707L

c.2120C>T

1 paper

NM_024675.4

p.P707fs

c.2119_2120fs