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

2 papers

NM_024675.4

p.L362P

c.1085T>C

Surrounding Variants

1 paper

NM_024675.4

p.L362R

c.1085T>G

1 paper

NM_024675.4

p.L362L

c.1086T>C

1 paper

NM_024675.4

p.L362fs

c.1084_1085fs

1 paper

NM_024675.4

p.L362V

c.1084C>G

1 paper

NM_024675.4

p.T361T

c.1083T>C

2 papers

NM_024675.4

p.D363Y

c.1087G>T

2 papers

NM_024675.4

p.L362delFs

c.1085_1086delAA

2 papers

NM_024675.4

p.T361I

c.1082C>T

4 papers

NM_024675.4

p.T361S

c.1082C>G

1 paper

NM_024675.4

p.T361N

c.1082C>A

1 paper

NM_024675.4

p.D363V

c.1088A>T

1 paper

NM_024675.4

p.D363G

c.1088A>G