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.L939M

c.2815T>A

Surrounding Variants

1 paper

NM_024675.4

p.L939insFs

c.2815_2816ins19

2 papers

NM_024675.4

p.L939V

c.2815T>G

1 paper

NM_024675.4

p.L939L

c.2815T>C

2 papers

NM_024675.4

p.L939fs

c.2815_2816fs

82 papers

NM_024675.4

p.L939W

c.2816T>G

1 paper

NM_024675.4

p.N938K

c.2814T>G

1 paper

NM_024675.4

p.L939S

c.2816T>C

1 paper

NM_024675.4

p.N938K

c.2814T>A

1 paper

NM_024675.4

p.L939F

c.2817G>T

1 paper

NM_024675.4

p.L939F

c.2817G>C

1 paper

NM_024675.4

p.N938I

c.2813A>T

2 papers

NM_024675.4

p.N938S

c.2813A>G