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.I223V

c.667A>G

Surrounding Variants

2 papers

NM_024675.4

p.L222del1

c.664_666delTAA

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.L222*

c.665T>G

1 paper

NM_024675.4

p.L222S

c.665T>C

1 paper

NM_024675.4

p.L222*

c.665T>A

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.P224L

c.671C>T

1 paper

NM_024675.4

p.P224R

c.671C>G

1 paper

NM_024675.4

p.P224delins

c.670_671delinsAT

1 paper

NM_024675.4

p.V221V

c.663A>G