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.S357fs

c.1069_1070fs

Surrounding Variants

2 papers

NM_024675.4

p.P358S

c.1072C>T

2 papers

NM_024675.4

p.S357F

c.1070C>T

1 paper

NM_024675.4

p.P358A

c.1072C>G

1 paper

NM_024675.4

p.S357C

c.1070C>G

1 paper

NM_024675.4

p.K356delFs

c.1066_1067delTT

2 papers

NM_024675.4

p.P358L

c.1073C>T

1 paper

NM_024675.4

p.P358R

c.1073C>G

1 paper

NM_024675.4

p.P358H

c.1073C>A

1 paper

NM_024675.4

p.P358delins

c.1072_1073delinsTT

1 paper

NM_024675.4

p.N340_L355del16

c.1018_1064del48

1 paper

NM_024675.4

p.K356I

c.1067A>T

3 papers

NM_024675.4

p.K356R

c.1067A>G