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.S259R

c.775A>C

Surrounding Variants

1 paper

NM_024675.4

p.S259G

c.775A>G

1 paper

NM_024675.4

p.S258delFs

c.774delA

1 paper

NM_024675.4

p.S258S

c.774T>C

1 paper

NM_024675.4

p.S259I

c.776G>T

1 paper

NM_024675.4

p.S259N

c.776G>A

1 paper

NM_024675.4

p.G257_S259delFs

c.771_775del5

1 paper

NM_024675.4

p.S259fs

c.775_776fs

1 paper

NM_024675.4

p.S259R

c.777T>G

1 paper

NM_024675.4

p.S259R

c.777T>A

1 paper

NM_024675.4

p.S258T

c.773G>C

2 papers

NM_024675.4

p.S258N

c.773G>A

5 papers

NM_024675.4

p.Q260*

c.778C>T