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.E462V

c.1385A>T

Surrounding Variants

2 papers

NM_024675.4

p.E462G

c.1385A>G

5 papers

NM_024675.4

p.E462*

c.1384G>T

1 paper

NM_024675.4

p.E462E

c.1386A>G

3 papers

NM_024675.4

p.S461R

c.1383T>G

3 papers

NM_024675.4

p.S461R

c.1383T>A

1 paper

NM_024675.4

p.I463S

c.1388T>G

1 paper

NM_024675.4

p.I463delFs

c.1387delT

1 paper

NM_024675.4

p.E462_I463delFs

c.1386_1387delTT

2 papers

NM_024675.4

p.S461I

c.1382G>T

2 papers

NM_024675.4

p.Q460insFs

c.1380dupA

1 paper

NM_024675.4

p.S461N

c.1382G>A

1 paper

NM_024675.4

p.I463M

c.1389T>G