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.P224L

c.671C>T

Surrounding Variants

1 paper

NM_024675.4

p.P224R

c.671C>G

1 paper

NM_024675.4

p.P224delins

c.670_671delinsAT

2 papers

NM_024675.4

p.P224_P225insA

c.670_674ins3

1 paper

NM_024675.4

p.I223delFs

c.668delA

1 paper

NM_024675.4

p.P225S

c.673C>T

1 paper

NM_024675.4

p.P224insFs

c.672dupA

2 papers

NM_024675.4

p.I223T

c.668T>C

1 paper

NM_024675.4

p.I223delFs

c.667delT

1 paper

NM_024675.4

p.P225R

c.674C>G

2 papers

NM_024675.4

p.I223V

c.667A>G

1 paper

NM_024675.4

p.P225P

c.675A>G

1 paper

NM_024675.4

p.P225fs

c.673_674fs