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.L482L

c.1446C>G

Surrounding Variants

2 papers

NM_024675.4

p.L482fs

c.1444_1445fs

1 paper

NM_024675.4

p.L482P

c.1445T>C

1 paper

NM_024675.4

p.L482delFs

c.1446delG

1 paper

NM_024675.4

p.L482delFs

c.1444delG

1 paper

NM_024675.4

p.S483fs

c.1447_1448fs

4 papers

NM_024675.4

p.S483L

c.1448C>T

1 paper

NM_024675.4

p.L482F

c.1444C>T

5 papers

NM_024675.4

p.S483*

c.1448C>G

5 papers

NM_024675.4

p.S483*

c.1448C>A

1 paper

NM_024675.4

p.S483S

c.1449A>T

1 paper

NM_024675.4

p.S483delFs

c.1447_1448delGA

1 paper

NM_024675.4

p.L482_S483del1

c.1446_1448delGAG