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.N342delFs

c.1024delT

Surrounding Variants

1 paper

NM_024675.4

p.N342K

c.1026C>G

1 paper

NM_024675.4

p.N342K

c.1026C>A

22 papers

NM_024675.4

p.Q343*

c.1027C>T

6 papers

NM_024675.4

p.N342I

c.1025A>T

1 paper

NM_024675.4

p.A339_E341delFs

c.1017_1021del5

1 paper

NM_024675.4

p.Q343R

c.1028A>G

1 paper

NM_024675.4

p.N344D

c.1030A>G

1 paper

NM_024675.4

p.N340_E341delFs

c.1020_1021delCA

1 paper

NM_024675.4

p.N342_Q343delFs

c.1024_1027del4

1 paper

NM_024675.4

p.E341*

c.1021G>T

1 paper

NM_024675.4

p.E341K

c.1021G>A

1 paper

NM_024675.4

p.N344T

c.1031A>C