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.S285P

c.853T>C

Surrounding Variants

1 paper

NM_024675.4

p.L273_T284del12

c.817_851del36

1 paper

NM_024675.4

p.T284fs

c.850_851fs

3 papers

NM_024675.4

p.S285L

c.854C>T

2 papers

NM_024675.4

p.S285*

c.854C>G

2 papers

NM_024675.4

p.S285*

c.854C>A

2 papers

NM_024675.4

p.T284I

c.851C>T

1 paper

NM_024675.4

p.R282_T284insFs

c.844_850dup7

1 paper

NM_024675.4

p.T284insFs

c.851_852insAA

1 paper

NM_024675.4

p.T284N

c.851C>A

2 papers

NM_024675.4

p.P286fs

c.856_857fs

2 papers

NM_024675.4

p.T284fs

c.850_851fs

2 papers

NM_024675.4

p.P286S

c.856C>T