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.S448N

c.1343G>A

Surrounding Variants

1 paper

NM_024675.4

p.S448R

c.1344T>G

1 paper

NM_024675.4

p.S448R

c.1344T>A

1 paper

NM_024675.4

p.S448G

c.1342A>G

1 paper

NM_024675.4

p.S448R

c.1342A>C

1 paper

NM_024675.4

p.A447A

c.1341A>T

2 papers

NM_024675.4

p.A447fs

c.1339_1340fs

4 papers

NM_024675.4

p.A447V

c.1340C>T

1 paper

NM_024675.4

p.A447E

c.1340C>A

1 paper

NM_024675.4

p.K449I

c.1346A>T

1 paper

NM_024675.4

p.K449T

c.1346A>C

1 paper

NM_024675.4

p.A447T

c.1339G>A

2 papers

NM_024675.4

p.D446E

c.1338T>G