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.E954A

c.2861A>C

Surrounding Variants

1 paper

NM_024675.4

p.E954V

c.2861A>T

3 papers

NM_024675.4

p.E954G

c.2861A>G

1 paper

NM_024675.4

p.E954delFs

c.2860delC

1 paper

NM_024675.4

p.E954*

c.2860G>T

1 paper

NM_024675.4

p.E954Q

c.2860G>C

1 paper

NM_024675.4

p.E954K

c.2860G>A

1 paper

NM_024675.4

p.D953delFs

c.2859delA

1 paper

NM_024675.4

p.E954D

c.2862A>T

1 paper

NM_024675.4

p.E954D

c.2862A>C

2 papers

NM_024675.4

p.D953E

c.2859T>G

1 paper

NM_024675.4

p.D953D

c.2859T>C

2 papers

NM_024675.4

p.D953E

c.2859T>A