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.Q479K

c.1435C>A

Surrounding Variants

1 paper

NM_024675.4

p.Q479fs

c.1435_1436fs

5 papers

NM_024675.4

p.Q479*

c.1435C>T

1 paper

NM_024675.4

p.Q479E

c.1435C>G

1 paper

NM_024675.4

p.Q479L

c.1436A>T

2 papers

NM_024675.4

p.Q479P

c.1436A>C

1 paper

NM_024675.4

p.S478_Q479delFs

c.1434_1435delGA

1 paper

NM_024675.4

p.S478F

c.1433C>T

1 paper

NM_024675.4

p.S478C

c.1433C>G

1 paper

NM_024675.4

p.S478P

c.1432T>C

4 papers

NM_024675.4

p.T477delFs

c.1431delG

5 papers

NM_024675.4

p.K480*

c.1438A>T

1 paper

NM_024675.4

p.K480E

c.1438A>G