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

3 papers

NM_024675.4

p.Q314H

c.942A>C

Surrounding Variants

3 papers

NM_024675.4

p.Q314H

c.942A>T

1 paper

NM_024675.4

p.Q314Q

c.942A>G

1 paper

NM_024675.4

p.L315L

c.943C>T

1 paper

NM_024675.4

p.L315M

c.943C>A

1 paper

NM_024675.4

p.Q314R

c.941A>G

1 paper

NM_024675.4

p.G313insFs

c.939dupC

2 papers

NM_024675.4

p.G313delFs

c.939delG

1 paper

NM_024675.4

p.L315P

c.944T>C

7 papers

NM_024675.4

p.Q314*

c.940C>T

1 paper

NM_024675.4

p.Q314fs

c.940_941fs

1 paper

NM_024675.4

p.L315L

c.945G>T

1 paper

NM_024675.4

p.L315L

c.945G>A