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

5 papers

NM_024675.4

p.L451*

c.1352T>G

Surrounding Variants

5 papers

NM_024675.4

p.L451*

c.1352T>A

2 papers

NM_024675.4

p.L451V

c.1351T>G

1 paper

NM_024675.4

p.L451I

c.1351T>A

3 papers

NM_024675.4

p.L451F

c.1353A>T

1 paper

NM_024675.4

p.L451L

c.1353A>G

3 papers

NM_024675.4

p.L451F

c.1353A>C

1 paper

NM_024675.4

p.N450insFs

c.1350dupT

2 papers

NM_024675.4

p.N450delFs

c.1349delT

2 papers

NM_024675.4

p.N452S

c.1355A>G

1 paper

NM_024675.4

p.N450T

c.1349A>C

1 paper

NM_024675.4

p.N450fs

c.1348_1349fs

1 paper

NM_024675.4

p.N452N

c.1356C>T