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.T973I

c.2918C>T

Surrounding Variants

1 paper

NM_024675.4

p.T973R

c.2918C>G

2 papers

NM_024675.4

p.T973K

c.2918C>A

1 paper

NM_024675.4

p.T973T

c.2919A>T

1 paper

NM_024675.4

p.T973S

c.2917A>T

1 paper

NM_024675.4

p.T973T

c.2919A>G

1 paper

NM_024675.4

p.T973A

c.2917A>G

1 paper

NM_024675.4

p.T973P

c.2917A>C

1 paper

NM_024675.4

p.L972fs

c.2914_2915fs

3 papers

NM_024675.4

p.L972delFs

c.2915delA

6 papers

NM_024675.4

p.K974fs

c.2920_2921fs

2 papers

NM_024675.4

p.K974E

c.2920A>G

1 paper

NM_024675.4

p.K974Q

c.2920A>C