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

6 papers

NM_024675.4

p.Y409*

c.1227T>A

Surrounding Variants

1 paper

NM_024675.4

p.Y409fs

c.1225_1226fs

6 papers

NM_024675.4

p.Y409*

c.1227T>G

1 paper

NM_024675.4

p.Y409delFs

c.1226_1227delAT

1 paper

NM_024675.4

p.Y409F

c.1226A>T

5 papers

NM_024675.4

p.Y409C

c.1226A>G

3 papers

NM_024675.4

p.V410G

c.1229T>G

2 papers

NM_024675.4

p.Y409D

c.1225T>G

5 papers

NM_024675.4

p.V410A

c.1229T>C

2 papers

NM_024675.4

p.Y409H

c.1225T>C

1 paper

NM_024675.4

p.V410V

c.1230T>C

1 paper

NM_024675.4

p.Y408Y

c.1224T>C

1 paper

NM_024675.4

p.R411*

c.1231A>T