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.N930H

c.2788A>C

Surrounding Variants

1 paper

NM_024675.4

p.N930Y

c.2788A>T

1 paper

NM_024675.4

p.N930D

c.2788A>G

1 paper

NM_024675.4

p.Y929insFs

c.2786dupA

2 papers

NM_024675.4

p.Y929*

c.2787T>G

1 paper

NM_024675.4

p.Y929Y

c.2787T>C

2 papers

NM_024675.4

p.Y929*

c.2787T>A

1 paper

NM_024675.4

p.N930I

c.2789A>T

1 paper

NM_024675.4

p.N930S

c.2789A>G

3 papers

NM_024675.4

p.N930T

c.2789A>C

2 papers

NM_024675.4

p.Y929_N930delFs

c.2787_2788delTA

1 paper

NM_024675.4

p.N930K

c.2790T>G

1 paper

NM_024675.4

p.N930K

c.2790T>A