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.L481P

c.1442T>C

Surrounding Variants

1 paper

NM_024675.4

p.L481R

c.1442T>G

1 paper

NM_024675.4

p.K480delFs

c.1440delT

1 paper

NM_024675.4

p.L482F

c.1444C>T

1 paper

NM_024675.4

p.K480fs

c.1438_1439fs

1 paper

NM_024675.4

p.L482P

c.1445T>C

1 paper

NM_024675.4

p.L482delFs

c.1444delG

1 paper

NM_024675.4

p.K480I

c.1439A>T

1 paper

NM_024675.4

p.Q479_K480delFs

c.1437_1438delTC

1 paper

NM_024675.4

p.L482L

c.1446C>G

2 papers

NM_024675.4

p.L482fs

c.1444_1445fs

5 papers

NM_024675.4

p.K480*

c.1438A>T

1 paper

NM_024675.4

p.K480E

c.1438A>G