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

5 papers

NM_024675.4

p.E230*

c.688G>T

Surrounding Variants

1 paper

NM_024675.4

p.P229delFs

c.686_687delTG

1 paper

NM_024675.4

p.Q228_P229del2

c.682_686del6

1 paper

NM_024675.4

p.E230V

c.689A>T

2 papers

NM_024675.4

p.E230G

c.689A>G

2 papers

NM_024675.4

p.E230A

c.689A>C

1 paper

NM_024675.4

p.P229L

c.686C>T

1 paper

NM_024675.4

p.P229R

c.686C>G

1 paper

NM_024675.4

p.P229S

c.685C>T

1 paper

NM_024675.4

p.Q228delFs

c.684delT

3 papers

NM_024675.4

p.K231*

c.691A>T

1 paper

NM_024675.4

p.K231E

c.691A>G

1 paper

NM_024675.4

p.E230_K231insFs

c.690_691ins16