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.T983A

c.2947A>G

Surrounding Variants

1 paper

NM_024675.4

p.T983S

c.2947A>T

1 paper

NM_024675.4

p.T983S

c.2948C>G

1 paper

NM_024675.4

p.S981_G982del2

c.2941_2945del6

1 paper

NM_024675.4

p.T983T

c.2949C>T

1 paper

NM_024675.4

p.T983T

c.2949C>G

1 paper

NM_024675.4

p.G982W

c.2944G>T

1 paper

NM_024675.4

p.L984insFs

c.2950dupC

1 paper

NM_024675.4

p.S981R

c.2943T>G

1 paper

NM_024675.4

p.S981S

c.2943T>C

1 paper

NM_024675.4

p.S981R

c.2943T>A

1 paper

NM_024675.4

p.L984delFs

c.2950delG

1 paper

NM_024675.4

p.S981N

c.2942G>A