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.L960Q

c.2879T>A

Surrounding Variants

1 paper

NM_024675.4

p.L960R

c.2879T>G

1 paper

NM_024675.4

p.L960P

c.2879T>C

1 paper

NM_024675.4

p.L960delFs

c.2878delG

1 paper

NM_024675.4

p.L960V

c.2878C>G

1 paper

NM_024675.4

p.L960I

c.2878C>A

1 paper

NM_024675.4

p.L960L

c.2880A>G

1 paper

NM_024675.4

p.L961fs

c.2881_2882fs

4 papers

NM_024675.4

p.L961L

c.2881C>T

1 paper

NM_024675.4

p.L961V

c.2881C>G

1 paper

NM_024675.4

p.L961M

c.2881C>A

1 paper

NM_024675.4

p.L960delFs

c.2880delT

1 paper

NM_024675.4

p.V959V

c.2877A>T