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.K203E

c.607A>G

Surrounding Variants

1 paper

NM_024675.4

p.K203T

c.608A>C

1 paper

NM_024675.4

p.L202P

c.605T>C

1 paper

NM_024675.4

p.K203fs

c.607_608fs

1 paper

NM_024675.4

p.S204A

c.610T>G

1 paper

NM_024675.4

p.S204T

c.610T>A

1 paper

NM_024675.4

p.K203delFs

c.609delT

1 paper

NM_024675.4

p.L202F

c.604C>T

1 paper

NM_024675.4

p.L202V

c.604C>G

1 paper

NM_024675.4

p.S201insFs

c.602_603insG

1 paper

NM_024675.4

p.S201fs

c.601_602fs

1 paper

NM_024675.4

p.S201R

c.603T>G

1 paper

NM_024675.4

p.S201R

c.603T>A