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.G257delFs

c.770delC

Surrounding Variants

1 paper

NM_024675.4

p.G257V

c.770G>T

3 papers

NM_024675.4

p.G257D

c.770G>A

1 paper

NM_024675.4

p.S258G

c.772A>G

1 paper

NM_024675.4

p.G257C

c.769G>T

1 paper

NM_024675.4

p.S258T

c.773G>C

1 paper

NM_024675.4

p.G257R

c.769G>C

4 papers

NM_024675.4

p.G257S

c.769G>A

2 papers

NM_024675.4

p.S258N

c.773G>A

1 paper

NM_024675.4

p.S258S

c.774T>C

6 papers

NM_024675.4

p.S256S

c.768C>T

1 paper

NM_024675.4

p.S256R

c.768C>G

1 paper

NM_024675.4

p.S256R

c.768C>A