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.L389L

c.1167T>C

Surrounding Variants

4 papers

NM_024675.4

p.S390_A391insT

c.1168_1172ins3

1 paper

NM_024675.4

p.L389P

c.1166T>C

1 paper

NM_024675.4

p.P388_L389del2

c.1162_1166del6

2 papers

NM_024675.4

p.S390F

c.1169C>T

2 papers

NM_024675.4

p.L389F

c.1165C>T

2 papers

NM_024675.4

p.S390C

c.1169C>G

1 paper

NM_024675.4

p.L389V

c.1165C>G

1 paper

NM_024675.4

p.S390insFs

c.1168dupT

2 papers

NM_024675.4

p.S390Y

c.1169C>A

1 paper

NM_024675.4

p.S390fs

c.1168_1169fs

1 paper

NM_024675.4

p.P388P

c.1164T>C

1 paper

NM_024675.4

p.P388delFs

c.1163delG