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.K899N

c.2697A>C

Surrounding Variants

2 papers

NM_024675.4

p.K899N

c.2697A>T

1 paper

NM_024675.4

p.A900S

c.2698G>T

1 paper

NM_024675.4

p.A900P

c.2698G>C

1 paper

NM_024675.4

p.A900T

c.2698G>A

2 papers

NM_024675.4

p.K899I

c.2696A>T

1 paper

NM_024675.4

p.K899R

c.2696A>G

1 paper

NM_024675.4

p.K899T

c.2696A>C

3 papers

NM_024675.4

p.A900V

c.2699C>T

1 paper

NM_024675.4

p.A900G

c.2699C>G

1 paper

NM_024675.4

p.A900D

c.2699C>A

1 paper

NM_024675.4

p.K899E

c.2695A>G

1 paper

NM_024675.4

p.K899Q

c.2695A>C