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.K393N

c.1179A>C

Surrounding Variants

1 paper

NM_024675.4

p.K393N

c.1179A>T

2 papers

NM_024675.4

p.H394Y

c.1180C>T

1 paper

NM_024675.4

p.K393delFs

c.1179delT

2 papers

NM_024675.4

p.K393R

c.1178A>G

5 papers

NM_024675.4

p.H394L

c.1181A>T

1 paper

NM_024675.4

p.K393E

c.1177A>G

1 paper

NM_024675.4

p.H394P

c.1181A>C

1 paper

NM_024675.4

p.K393Q

c.1177A>C

2 papers

NM_024675.4

p.K393_H394insC

c.1177_1181ins3

1 paper

NM_024675.4

p.K393_H394insFs

c.1179_1180dupAC

1 paper

NM_024675.4

p.H394H

c.1182T>C

1 paper

NM_024675.4

p.E392D

c.1176A>T