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.F948V

c.2842T>G

Surrounding Variants

1 paper

NM_024675.4

p.F948L

c.2842T>C

1 paper

NM_024675.4

p.F948I

c.2842T>A

1 paper

NM_024675.4

p.F948C

c.2843T>G

1 paper

NM_024675.4

p.F948S

c.2843T>C

1 paper

NM_024675.4

p.F948Y

c.2843T>A

8 papers

NM_024675.4

p.L947F

c.2841G>T

8 papers

NM_024675.4

p.L947F

c.2841G>C

1 paper

NM_024675.4

p.F948L

c.2844T>G

1 paper

NM_024675.4

p.L947W

c.2840T>G

15 papers

NM_024675.4

p.L947S

c.2840T>C

1 paper

NM_024675.4

p.F948L

c.2844T>A

1 paper

NM_024675.4

p.L947*

c.2840T>A