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.T547I

c.1640C>T

Surrounding Variants

1 paper

NM_024675.4

p.T547T

c.1641C>T

1 paper

NM_024675.4

p.V546_T547insFs

c.1638_1639insC

1 paper

NM_024675.4

p.V546V

c.1638C>T

1 paper

NM_024675.4

p.S548fs

c.1642_1643fs

3 papers

NM_024675.4

p.V546A

c.1637T>C

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.V546_T547ins5

c.1636_1640ins15

1 paper

NM_024675.4

p.E545delFs

c.1635delT

1 paper

NM_024675.4

p.S548S

c.1644A>G

1 paper

NM_024675.4

p.S548S

c.1644A>C