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.L433F

c.1299G>T

Surrounding Variants

1 paper

NM_024675.4

p.L433F

c.1299G>C

1 paper

NM_024675.4

p.L433L

c.1299G>A

1 paper

NM_024675.4

p.L433W

c.1298T>G

1 paper

NM_024675.4

p.Q430_L433delFs

c.1288_1297del10

2 papers

NM_024675.4

p.D434H

c.1300G>C

2 papers

NM_024675.4

p.D434N

c.1300G>A

1 paper

NM_024675.4

p.L433M

c.1297T>A

1 paper

NM_024675.4

p.D434G

c.1301A>G

1 paper

NM_024675.4

p.D434A

c.1301A>C

1 paper

NM_024675.4

p.D434fs

c.1300_1301fs

2 papers

NM_024675.4

p.H432Q

c.1296T>G

1 paper

NM_024675.4

p.D434E

c.1302T>G