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.T412K

c.1235C>A

Surrounding Variants

2 papers

NM_024675.4

p.T412I

c.1235C>T

1 paper

NM_024675.4

p.T412R

c.1235C>G

1 paper

NM_024675.4

p.R411insFs

c.1233dupA

3 papers

NM_024675.4

p.T412A

c.1234A>G

1 paper

NM_024675.4

p.T412delFs

c.1235delG

1 paper

NM_024675.4

p.F404_T412delFs

c.1211_1235del25

3 papers

NM_024675.4

p.T413S

c.1237A>T

1 paper

NM_024675.4

p.T413A

c.1237A>G

2 papers

NM_024675.4

p.T413P

c.1237A>C

2 papers

NM_024675.4

p.R411K

c.1232G>A

6 papers

NM_024675.4

p.Y409_R411delFs

c.1227_1231del5

1 paper

NM_024675.4

p.T413I

c.1238C>T