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

2 papers

NM_024675.4

p.I654V

c.1960A>G

Surrounding Variants

1 paper

NM_024675.4

p.C653C

c.1959T>C

1 paper

NM_024675.4

p.C653*

c.1959T>A

1 paper

NM_024675.4

p.C653delFs

c.1958delC

1 paper

NM_024675.4

p.I654I

c.1962T>C

1 paper

NM_024675.4

p.C653F

c.1958G>T

2 papers

NM_024675.4

p.C653Y

c.1958G>A

1 paper

NM_024675.4

p.F655S

c.1964T>C

1 paper

NM_024675.4

p.S652S

c.1956C>T

1 paper

NM_024675.4

p.G651_S652insFs

c.1952_1955dup4

1 paper

NM_024675.4

p.F655F

c.1965T>C

2 papers

NM_024675.4

p.S652insFs

c.1954_1955insA

13 papers

NM_024675.4

p.S652N

c.1955G>A