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.K393_H394insFs

c.1179_1180dupAC

Surrounding Variants

1 paper

NM_024675.4

p.H394H

c.1182T>C

1 paper

NM_024675.4

p.S395P

c.1183T>C

5 papers

NM_024675.4

p.H394L

c.1181A>T

1 paper

NM_024675.4

p.H394P

c.1181A>C

2 papers

NM_024675.4

p.H394Y

c.1180C>T

1 paper

NM_024675.4

p.S395F

c.1184C>T

1 paper

NM_024675.4

p.S395C

c.1184C>G

1 paper

NM_024675.4

p.H394insFs

c.1182dupT

2 papers

NM_024675.4

p.S395Y

c.1184C>A

1 paper

NM_024675.4

p.S395delFs

c.1183delA

1 paper

NM_024675.4

p.K393delFs

c.1179delT

1 paper

NM_024675.4

p.K393N

c.1179A>T