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

4 papers

NM_024675.4

p.H549Q

c.1647C>G

Surrounding Variants

1 paper

NM_024675.4

p.H549H

c.1647C>T

4 papers

NM_024675.4

p.H549Q

c.1647C>A

1 paper

NM_024675.4

p.K550*

c.1648A>T

2 papers

NM_024675.4

p.K550Q

c.1648A>C

1 paper

NM_024675.4

p.H549fs

c.1645_1646fs

1 paper

NM_024675.4

p.S542_S548del7

c.1624_1643del21

1 paper

NM_024675.4

p.K550K

c.1650A>G

1 paper

NM_024675.4

p.S548S

c.1644A>G

1 paper

NM_024675.4

p.S548S

c.1644A>C

4 papers

NM_024675.4

p.K550fs

c.1648_1649fs

1 paper

NM_024675.4

p.S548delFs

c.1642_1643delGA

1 paper

NM_024675.4

p.Y551N

c.1651T>A