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

4 papers

NM_024675.4

p.C891C

c.2673C>T

Surrounding Variants

4 papers

NM_024675.4

p.C891W

c.2673C>G

4 papers

NM_024675.4

p.C891*

c.2673C>A

4 papers

NM_024675.4

p.E892*

c.2674G>T

2 papers

NM_024675.4

p.C891F

c.2672G>T

1 paper

NM_024675.4

p.E892Q

c.2674G>C

1 paper

NM_024675.4

p.C891S

c.2672G>C

18 papers

NM_024675.4

p.E892K

c.2674G>A

1 paper

NM_024675.4

p.C891Y

c.2672G>A

1 paper

NM_024675.4

p.C891G

c.2671T>G

1 paper

NM_024675.4

p.C891R

c.2671T>C

1 paper

NM_024675.4

p.C891S

c.2671T>A

1 paper

NM_024675.4

p.E892V

c.2675A>T