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.K149M

c.446A>T

Surrounding Variants

1 paper

NM_024675.4

p.K149R

c.446A>G

1 paper

NM_024675.4

p.K149T

c.446A>C

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.K149fs

c.445_446fs

1 paper

NM_024675.4

p.K149*

c.445A>T

1 paper

NM_024675.4

p.K149E

c.445A>G

1 paper

NM_024675.4

p.K149Q

c.445A>C

4 papers

NM_024675.4

p.K148delFs

c.444delC

1 paper

NM_024675.4

p.K148N

c.444G>T