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.S461I

c.1382G>T

Surrounding Variants

2 papers

NM_024675.4

p.Q460insFs

c.1380dupA

1 paper

NM_024675.4

p.S461N

c.1382G>A

3 papers

NM_024675.4

p.S461R

c.1383T>G

3 papers

NM_024675.4

p.S461R

c.1383T>A

3 papers

NM_024675.4

p.S461R

c.1381A>C

5 papers

NM_024675.4

p.E462*

c.1384G>T

1 paper

NM_024675.4

p.Q460Q

c.1380A>G

2 papers

NM_024675.4

p.E462V

c.1385A>T

22 papers

NM_024675.4

p.Q460R

c.1379A>G

2 papers

NM_024675.4

p.E462G

c.1385A>G

3 papers

NM_024675.4

p.Q460*

c.1378C>T

1 paper

NM_024675.4

p.Q460insFs

c.1378_1379insA