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.E554_L556delFs

c.1660_1666del7

Surrounding Variants

1 paper

NM_024675.4

p.K555insFs

c.1665dupA

1 paper

NM_024675.4

p.L556L

c.1666T>C

2 papers

NM_024675.4

p.K555delFs

c.1665delT

4 papers

NM_024675.4

p.F557L

c.1669T>C

1 paper

NM_024675.4

p.K555N

c.1665A>T

1 paper

NM_024675.4

p.K555K

c.1665A>G

1 paper

NM_024675.4

p.K555N

c.1665A>C

1 paper

NM_024675.4

p.K555fs

c.1663_1664fs

1 paper

NM_024675.4

p.F557C

c.1670T>G

1 paper

NM_024675.4

p.F557S

c.1670T>C

1 paper

NM_024675.4

p.F557Y

c.1670T>A

1 paper

NM_024675.4

p.T547_F557delFs

c.1641_1669del29