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.S318G

c.952A>G

Surrounding Variants

1 paper

NM_024675.4

p.S318R

c.952A>C

1 paper

NM_024675.4

p.S318N

c.953G>A

1 paper

NM_024675.4

p.T317T

c.951A>T

1 paper

NM_024675.4

p.S318R

c.954T>G

1 paper

NM_024675.4

p.S318S

c.954T>C

1 paper

NM_024675.4

p.S318R

c.954T>A

2 papers

NM_024675.4

p.T317I

c.950C>T

1 paper

NM_024675.4

p.S319P

c.955T>C

1 paper

NM_024675.4

p.T317S

c.949A>T

5 papers

NM_024675.4

p.T317P

c.949A>C

3 papers

NM_024675.4

p.P316delFs

c.948delG

1 paper

NM_024675.4

p.P316delFs

c.946_947delGG