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.L250F

c.750A>C

Surrounding Variants

2 papers

NM_024675.4

p.L250F

c.750A>T

1 paper

NM_024675.4

p.L250L

c.750A>G

2 papers

NM_024675.4

p.P249_L250delFs

c.745_749del5

2 papers

NM_024675.4

p.L250S

c.749T>C

56 papers

NM_024675.4

p.Q251*

c.751C>T

1 paper

NM_024675.4

p.L250delFs

c.750delT

1 paper

NM_024675.4

p.L250L

c.748T>C

1 paper

NM_024675.4

p.L250I

c.748T>A

2 papers

NM_024675.4

p.Q251L

c.752A>T

2 papers

NM_024675.4

p.Q251R

c.752A>G

2 papers

NM_024675.4

p.Q251delins

c.751_752delinsTT

1 paper

NM_024675.4

p.P249fs

c.745_746fs