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

2 papers

NM_024675.4

p.Q150E

c.448C>G

Surrounding Variants

4 papers

NM_024675.4

p.Q150*

c.448C>T

1 paper

NM_024675.4

p.Q150_Q151insT

c.448_452ins3

1 paper

NM_024675.4

p.Q150K

c.448C>A

1 paper

NM_024675.4

p.K149N

c.447G>T

2 papers

NM_024675.4

p.K149fs

c.445_446fs

1 paper

NM_024675.4

p.K149insFs

c.445dupA

1 paper

NM_024675.4

p.K149N

c.447G>C

1 paper

NM_024675.4

p.Q150L

c.449A>T

3 papers

NM_024675.4

p.Q150R

c.449A>G

1 paper

NM_024675.4

p.Q150P

c.449A>C

1 paper

NM_024675.4

p.Q150H

c.450G>T

1 paper

NM_024675.4

p.Q150H

c.450G>C