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.T333T

c.999C>G

Surrounding Variants

1 paper

NM_024675.4

p.T333T

c.999C>T

7 papers

NM_024675.4

p.Y334D

c.1000T>G

1 paper

NM_024675.4

p.Y334H

c.1000T>C

3 papers

NM_024675.4

p.T333I

c.998C>T

2 papers

NM_024675.4

p.T333N

c.998C>A

17 papers

NM_024675.4

p.Y334C

c.1001A>G

2 papers

NM_024675.4

p.T333A

c.997A>G

1 paper

NM_024675.4

p.Y334insFs

c.1001_1002insC

2 papers

NM_024675.4

p.Y334*

c.1002C>G

1 paper

NM_024675.4

p.Y334fs

c.1000_1001fs

3 papers

NM_024675.4

p.Y334*

c.1002C>A

1 paper

NM_024675.4

p.L332insFs

c.994dupC