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.T386insFs

c.1158dupC

Surrounding Variants

3 papers

NM_024675.4

p.S387F

c.1160C>T

2 papers

NM_024675.4

p.S387C

c.1160C>G

1 paper

NM_024675.4

p.S387fs

c.1159_1160fs

1 paper

NM_024675.4

p.S387S

c.1161T>G

2 papers

NM_024675.4

p.T386I

c.1157C>T

2 papers

NM_024675.4

p.T386S

c.1157C>G

1 paper

NM_024675.4

p.T386delFs

c.1156delT

2 papers

NM_024675.4

p.P388S

c.1162C>T

1 paper

NM_024675.4

p.S387delFs

c.1161delA

2 papers

NM_024675.4

p.T386S

c.1156A>T

4 papers

NM_024675.4

p.T386A

c.1156A>G

1 paper

NM_024675.4

p.T386P

c.1156A>C