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.V959L

c.2875G>T

Surrounding Variants

1 paper

NM_024675.4

p.V959L

c.2875G>C

1 paper

NM_024675.4

p.V959I

c.2875G>A

1 paper

NM_024675.4

p.V959G

c.2876T>G

1 paper

NM_024675.4

p.V959A

c.2876T>C

1 paper

NM_024675.4

p.V959E

c.2876T>A

1 paper

NM_024675.4

p.Q958_V959delFs

c.2872_2875del4

1 paper

NM_024675.4

p.Q958H

c.2874A>T

1 paper

NM_024675.4

p.Q958Q

c.2874A>G

1 paper

NM_024675.4

p.Q958H

c.2874A>C

1 paper

NM_024675.4

p.V959V

c.2877A>T

1 paper

NM_024675.4

p.Q958L

c.2873A>T

2 papers

NM_024675.4

p.Q958R

c.2873A>G