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.S133fs

c.397_398fs

Surrounding Variants

1 paper

NM_024675.4

p.S133C

c.397A>T

1 paper

NM_024675.4

p.S133G

c.397A>G

1 paper

NM_024675.4

p.S133R

c.397A>C

1 paper

NM_024675.4

p.S133I

c.398G>T

12 papers

NM_024675.4

p.S133T

c.398G>C

3 papers

NM_024675.4

p.S133N

c.398G>A

1 paper

NM_024675.4

p.V132V

c.396C>T

3 papers

NM_024675.4

p.V132fs

c.394_395fs

1 paper

NM_024675.4

p.V132V

c.396C>A

8 papers

NM_024675.4

p.V132delFs

c.395delA

1 paper

NM_024675.4

p.S133R

c.399T>G

1 paper

NM_024675.4

p.V132G

c.395T>G