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.T513K

c.1538C>A

Surrounding Variants

5 papers

NM_024675.4

p.T513I

c.1538C>T

1 paper

NM_024675.4

p.T513T

c.1539A>T

3 papers

NM_024675.4

p.T513A

c.1537A>G

1 paper

NM_024675.4

p.T513P

c.1537A>C

3 papers

NM_024675.4

p.T513delFs

c.1538delG

2 papers

NM_024675.4

p.T513fs

c.1537_1538fs

1 paper

NM_024675.4

p.G514*

c.1540G>T

2 papers

NM_024675.4

p.T513insFs

c.1539dupA

7 papers

NM_024675.4

p.G514R

c.1540G>C

7 papers

NM_024675.4

p.G514R

c.1540G>A

3 papers

NM_024675.4

p.Y512*

c.1536C>G

1 paper

NM_024675.4

p.Y512insFs

c.1535dupA