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.Q141E

c.421C>G

Surrounding Variants

1 paper

NM_024675.4

p.Q141fs

c.421_422fs

1 paper

NM_024675.4

p.Q141*

c.421C>T

1 paper

NM_024675.4

p.Q141K

c.421C>A

3 papers

NM_024675.4

p.K140delFs

c.420delC

1 paper

NM_024675.4

p.K140N

c.420G>T

1 paper

NM_024675.4

p.K140N

c.420G>C

1 paper

NM_024675.4

p.K140K

c.420G>A

3 papers

NM_024675.4

p.K140delFs

c.419delT

1 paper

NM_024675.4

p.Q141L

c.422A>T

1 paper

NM_024675.4

p.Q141R

c.422A>G

1 paper

NM_024675.4

p.Q141P

c.422A>C

1 paper

NM_024675.4

p.Q141delFs

c.421delG