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.V894E

c.2681T>A

Surrounding Variants

1 paper

NM_024675.4

p.V894G

c.2681T>G

1 paper

NM_024675.4

p.V894A

c.2681T>C

2 papers

NM_024675.4

p.E892_D893del2

c.2674_2678del6

1 paper

NM_024675.4

p.V894L

c.2680G>T

1 paper

NM_024675.4

p.V894L

c.2680G>C

1 paper

NM_024675.4

p.V894I

c.2680G>A

1 paper

NM_024675.4

p.V894V

c.2682A>G

2 papers

NM_024675.4

p.V894V

c.2682A>C

1 paper

NM_024675.4

p.D893E

c.2679T>G

1 paper

NM_024675.4

p.D893D

c.2679T>C

1 paper

NM_024675.4

p.D893E

c.2679T>A

1 paper

NM_024675.4

p.V895F

c.2683G>T