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

3 papers

NM_024675.4

p.S534A

c.1600T>G

Surrounding Variants

1 paper

NM_024675.4

p.S534fs

c.1600_1601fs

1 paper

NM_024675.4

p.T533fs

c.1597_1598fs

1 paper

NM_024675.4

p.T533T

c.1599T>A

2 papers

NM_024675.4

p.S534F

c.1601C>T

3 papers

NM_024675.4

p.L531_S534delFs

c.1591_1600del10

1 paper

NM_024675.4

p.T533N

c.1598C>A

2 papers

NM_024675.4

p.T533delFs

c.1597delT

1 paper

NM_024675.4

p.S535fs

c.1603_1604fs

1 paper

NM_024675.4

p.T533A

c.1597A>G

1 paper

NM_024675.4

p.S534del1

c.1600_1601delAGA

1 paper

NM_024675.4

p.H526_S534del0

c.1576_1602del27

1 paper

NM_024675.4

p.T533_S535insFs

c.1597_1603dup7