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.A727A

c.2181T>C

Surrounding Variants

1 paper

NM_024675.4

p.A727A

c.2181T>G

1 paper

NM_024675.4

p.F728L

c.2182T>C

1 paper

NM_024675.4

p.F728I

c.2182T>A

1 paper

NM_024675.4

p.A727V

c.2180C>T

1 paper

NM_024675.4

p.C724_F728delins

c.2171_2183delinsTAGTCTGTGCTGTAGTAGTGCTGTAGTAGTA

1 paper

NM_024675.4

p.P726P

c.2178T>C

1 paper

NM_024675.4

p.F728L

c.2184C>G

1 paper

NM_024675.4

p.F728L

c.2184C>A

1 paper

NM_024675.4

p.P729insFs

c.2185_2186insA

2 papers

NM_024675.4

p.P726_A727ins13

c.2176_2180ins39

1 paper

NM_024675.4

p.P729P

c.2187C>T

1 paper

NM_024675.4

p.T721_P729insFs

c.2161_2186dup26