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.T247delFs

c.740delG

Surrounding Variants

1 paper

NM_024675.4

p.T247fs

c.739_740fs

1 paper

NM_024675.4

p.T247insFs

c.741dupA

4 papers

NM_024675.4

p.V248L

c.742G>C

3 papers

NM_024675.4

p.T247I

c.740C>T

4 papers

NM_024675.4

p.T247R

c.740C>G

1 paper

NM_024675.4

p.T247K

c.740C>A

1 paper

NM_024675.4

p.V248A

c.743T>C

3 papers

NM_024675.4

p.V248delFs

c.742delC

2 papers

NM_024675.4

p.T247A

c.739A>G

1 paper

NM_024675.4

p.V248fs

c.742_743fs

2 papers

NM_024675.4

p.V248V

c.744T>C

1 paper

NM_024675.4

p.P249fs

c.745_746fs