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

5 papers

NM_024675.4

p.L936_G937delFs

c.2808_2811del4

Surrounding Variants

1 paper

NM_024675.4

p.N938Y

c.2812A>T

2 papers

NM_024675.4

p.N938D

c.2812A>G

1 paper

NM_024675.4

p.N938H

c.2812A>C

1 paper

NM_024675.4

p.N938I

c.2813A>T

2 papers

NM_024675.4

p.N938S

c.2813A>G

2 papers

NM_024675.4

p.G937G

c.2811A>G

1 paper

NM_024675.4

p.N938T

c.2813A>C

1 paper

NM_024675.4

p.G937G

c.2811A>C

1 paper

NM_024675.4

p.N938K

c.2814T>G

1 paper

NM_024675.4

p.N938K

c.2814T>A

1 paper

NM_024675.4

p.G937V

c.2810G>T

1 paper

NM_024675.4

p.G937A

c.2810G>C