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

4 papers

NM_024675.4

p.L1142delFs

c.3425delA

Surrounding Variants

4 papers

NM_024675.4

p.L1142fs

c.3424_3425fs

1 paper

NM_024675.4

p.L1142*

c.3425T>G

1 paper

NM_024675.4

p.L1142*

c.3425T>A

2 papers

NM_024675.4

p.L1143fs

c.3427_3428fs

11 papers

NM_024675.4

p.L1142_L1143insFs

c.3426_3427insA

18 papers

NM_024675.4

p.L1143P

c.3428T>C

31 papers

NM_024675.4

p.L1143H

c.3428T>A

1 paper

NM_024675.4

p.L1142I

c.3424T>A

6 papers

NM_024675.4

p.L1142fs

c.3424_3425fs

6 papers

NM_024675.4

p.L1143fs

c.3427_3428fs

3 papers

NM_024675.4

p.L1144F

c.3430C>T

1 paper

NM_024675.4

p.L1144V

c.3430C>G