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.I463M

c.1389T>G

Surrounding Variants

1 paper

NM_024675.4

p.I463S

c.1388T>G

1 paper

NM_024675.4

p.I463delFs

c.1387delT

1 paper

NM_024675.4

p.E462_I463delFs

c.1386_1387delTT

1 paper

NM_024675.4

p.R464fs

c.1390_1391fs

1 paper

NM_024675.4

p.R464W

c.1390A>T

1 paper

NM_024675.4

p.R464G

c.1390A>G

1 paper

NM_024675.4

p.I463insFs

c.1389dupT

1 paper

NM_024675.4

p.R464insFs

c.1390_1391ins5

1 paper

NM_024675.4

p.R464K

c.1391G>A

1 paper

NM_024675.4

p.I463_R464delFs

c.1389_1390delTA

1 paper

NM_024675.4

p.R464R

c.1392G>A

1 paper

NM_024675.4

p.E462E

c.1386A>G