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

8 papers

NM_024675.4

p.S640*

c.1919C>G

Surrounding Variants

9 papers

NM_024675.4

p.S640*

c.1919C>A

1 paper

NM_024675.4

p.S640_K641insT

c.1918_1922ins3

1 paper

NM_024675.4

p.S640S

c.1920A>T

1 paper

NM_024675.4

p.E639E

c.1917G>A

2 papers

NM_024675.4

p.K641E

c.1921A>G

4 papers

NM_024675.4

p.E639*

c.1915G>T

1 paper

NM_024675.4

p.F638insFs

c.1914dupT

1 paper

NM_024675.4

p.F638delFs

c.1914delA

1 paper

NM_024675.4

p.K641K

c.1923A>G

1 paper

NM_024675.4

p.M642T

c.1925T>C

5 papers

NM_024675.4

p.M642delFs

c.1924delT

1 paper

NM_024675.4

p.F638L

c.1912T>C