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

6 papers

NM_024675.4

p.L1142fs

c.3424_3425fs

Surrounding Variants

1 paper

NM_024675.4

p.L1142I

c.3424T>A

1 paper

NM_024675.4

p.L1142*

c.3425T>G

1 paper

NM_024675.4

p.L1142*

c.3425T>A

1 paper

NM_024675.4

p.D1141V

c.3422A>T

1 paper

NM_024675.4

p.D1141G

c.3422A>G

4 papers

NM_024675.4

p.L1142fs

c.3424_3425fs

4 papers

NM_024675.4

p.L1142delFs

c.3425delA

2 papers

NM_024675.4

p.L1143fs

c.3427_3428fs

1 paper

NM_024675.4

p.D1141Y

c.3421G>T

1 paper

NM_024675.4

p.D1141H

c.3421G>C

11 papers

NM_024675.4

p.L1142_L1143insFs

c.3426_3427insA

18 papers

NM_024675.4

p.L1143P

c.3428T>C