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.K422K

c.1266A>G

Surrounding Variants

1 paper

NM_024675.4

p.V423I

c.1267G>A

3 papers

NM_024675.4

p.K422delFs

c.1266delT

3 papers

NM_024675.4

p.K422R

c.1265A>G

1 paper

NM_024675.4

p.K422T

c.1265A>C

1 paper

NM_024675.4

p.V423A

c.1268T>C

1 paper

NM_024675.4

p.R421delFs

c.1263delC

1 paper

NM_024675.4

p.R421R

c.1263G>A

1 paper

NM_024675.4

p.A424S

c.1270G>T

1 paper

NM_024675.4

p.R421T

c.1262G>C

1 paper

NM_024675.4

p.A424T

c.1270G>A

2 papers

NM_024675.4

p.A424V

c.1271C>T

1 paper

NM_024675.4

p.A424G

c.1271C>G