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.M465I

c.1395G>C

Surrounding Variants

1 paper

NM_024675.4

p.M465I

c.1395G>T

1 paper

NM_024675.4

p.M465I

c.1395G>A

1 paper

NM_024675.4

p.S466A

c.1396T>G

1 paper

NM_024675.4

p.S466P

c.1396T>C

1 paper

NM_024675.4

p.S466T

c.1396T>A

1 paper

NM_024675.4

p.S466F

c.1397C>T

1 paper

NM_024675.4

p.M465V

c.1393A>G

1 paper

NM_024675.4

p.S466S

c.1398T>G

1 paper

NM_024675.4

p.R464R

c.1392G>A

1 paper

NM_024675.4

p.R464insFs

c.1390_1391ins5

1 paper

NM_024675.4

p.G467R

c.1399G>C

2 papers

NM_024675.4

p.G467S

c.1399G>A