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.E181D

c.543A>T

Surrounding Variants

1 paper

NM_024675.4

p.E181D

c.543A>C

1 paper

NM_024675.4

p.I182F

c.544A>T

1 paper

NM_024675.4

p.E181V

c.542A>T

1 paper

NM_024675.4

p.I182V

c.544A>G

1 paper

NM_024675.4

p.E181G

c.542A>G

1 paper

NM_024675.4

p.I182L

c.544A>C

1 paper

NM_024675.4

p.E181A

c.542A>C

1 paper

NM_024675.4

p.I182S

c.545T>G

1 paper

NM_024675.4

p.I182T

c.545T>C

1 paper

NM_024675.4

p.I182N

c.545T>A

1 paper

NM_024675.4

p.I182delFs

c.544delT

3 papers

NM_024675.4

p.E181*

c.541G>T