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.L499F

c.1497G>C

Surrounding Variants

1 paper

NM_024675.4

p.L499fs

c.1495_1496fs

1 paper

NM_024675.4

p.L499L

c.1497G>A

4 papers

NM_024675.4

p.S500P

c.1498T>C

1 paper

NM_024675.4

p.L499S

c.1496T>C

2 papers

NM_024675.4

p.L499*

c.1496T>A

1 paper

NM_024675.4

p.L499delFs

c.1497delC

1 paper

NM_024675.4

p.L499L

c.1495T>C

1 paper

NM_024675.4

p.S500C

c.1499C>G

1 paper

NM_024675.4

p.S500S

c.1500T>G

1 paper

NM_024675.4

p.S500S

c.1500T>C

1 paper

NM_024675.4

p.D498D

c.1494C>T

1 paper

NM_024675.4

p.R501fs

c.1501_1502fs