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.P144Q

c.431C>A

Surrounding Variants

1 paper

NM_024675.4

p.P144L

c.431C>T

1 paper

NM_024675.4

p.P144R

c.431C>G

2 papers

NM_024675.4

p.P144S

c.430C>T

2 papers

NM_024675.4

p.P144A

c.430C>G

1 paper

NM_024675.4

p.P144T

c.430C>A

1 paper

NM_024675.4

p.P144P

c.432A>T

1 paper

NM_024675.4

p.P144P

c.432A>G

1 paper

NM_024675.4

p.L143L

c.429G>T

1 paper

NM_024675.4

p.L143delFs

c.428delA

4 papers

NM_024675.4

p.S145C

c.433A>T

1 paper

NM_024675.4

p.S145G

c.433A>G

1 paper

NM_024675.4

p.S145R

c.433A>C