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.A38A

c.114C>G

Surrounding Variants

2 papers

NM_024675.4

p.A38A

c.114C>T

1 paper

NM_024675.4

p.A38delFs

c.112_113delGC

6 papers

NM_024675.4

p.Q39*

c.115C>T

5 papers

NM_024675.4

p.A38V

c.113C>T

9 papers

NM_024675.4

p.A38G

c.113C>G

1 paper

NM_024675.4

p.Q39E

c.115C>G

1 paper

NM_024675.4

p.Q39K

c.115C>A

1 paper

NM_024675.4

p.A38D

c.113C>A

1 paper

NM_024675.4

p.Q39fs

c.115_116fs

1 paper

NM_024675.4

p.A38S

c.112G>T

1 paper

NM_024675.4

p.A38_Q39insG

c.112_116ins3

1 paper

NM_024675.4

p.A38P

c.112G>C