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.S548S

c.1644A>C

Surrounding Variants

1 paper

NM_024675.4

p.S548S

c.1644A>G

1 paper

NM_024675.4

p.S548delFs

c.1642_1643delGA

1 paper

NM_024675.4

p.S548L

c.1643C>T

1 paper

NM_024675.4

p.S548*

c.1643C>G

1 paper

NM_024675.4

p.S548*

c.1643C>A

1 paper

NM_024675.4

p.H549fs

c.1645_1646fs

1 paper

NM_024675.4

p.S542_S548del7

c.1624_1643del21

1 paper

NM_024675.4

p.S548fs

c.1642_1643fs

1 paper

NM_024675.4

p.H549H

c.1647C>T

1 paper

NM_024675.4

p.T547T

c.1641C>T

4 papers

NM_024675.4

p.H549Q

c.1647C>G

4 papers

NM_024675.4

p.H549Q

c.1647C>A