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.D525fs

c.1573_1574fs

Surrounding Variants

1 paper

NM_024675.4

p.D525delFs

c.1575delA

1 paper

NM_024675.4

p.D525_H526insC

c.1573_1577ins3

1 paper

NM_024675.4

p.D525N

c.1573G>A

1 paper

NM_024675.4

p.H526H

c.1578T>C

21 papers

NM_024675.4

p.S524S

c.1572A>G

1 paper

NM_024675.4

p.S524fs

c.1570_1571fs

9 papers

NM_024675.4

p.S524*

c.1571C>G

5 papers

NM_024675.4

p.S524*

c.1571C>A

1 paper

NM_024675.4

p.S524delFs

c.1570delA

1 paper

NM_024675.4

p.P522_A523del2

c.1564_1568del6

1 paper

NM_024675.4

p.C527S

c.1580G>C

1 paper

NM_024675.4

p.C527W

c.1581T>G