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.E495delFs

c.1485delT

Surrounding Variants

1 paper

NM_024675.4

p.D496H

c.1486G>C

1 paper

NM_024675.4

p.D496D

c.1488T>C

1 paper

NM_024675.4

p.E495Q

c.1483G>C

1 paper

NM_024675.4

p.T494delFs

c.1482delA

1 paper

NM_024675.4

p.N497D

c.1489A>G

3 papers

NM_024675.4

p.T494fs

c.1480_1481fs

1 paper

NM_024675.4

p.T494T

c.1482T>C

1 paper

NM_024675.4

p.N497S

c.1490A>G

1 paper

NM_024675.4

p.N497insFs

c.1489dupA

1 paper

NM_024675.4

p.N497N

c.1491T>C

1 paper

NM_024675.4

p.N497delFs

c.1490delT

4 papers

NM_024675.4

p.T494fs

c.1480_1481fs