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.G644E

c.1931G>A

Surrounding Variants

3 papers

NM_024675.4

p.G644*

c.1930G>T

1 paper

NM_024675.4

p.G644R

c.1930G>C

1 paper

NM_024675.4

p.G644R

c.1930G>A

1 paper

NM_024675.4

p.F643delFs

c.1929delA

1 paper

NM_024675.4

p.F638_F643delFs

c.1914_1929del16

1 paper

NM_024675.4

p.G644G

c.1932A>G

1 paper

NM_024675.4

p.G644G

c.1932A>C

1 paper

NM_024675.4

p.F643F

c.1929T>C

2 papers

NM_024675.4

p.E645*

c.1933G>T

1 paper

NM_024675.4

p.E645K

c.1933G>A

3 papers

NM_024675.4

p.E645E

c.1935G>A

1 paper

NM_024675.4

p.M642I

c.1926G>T