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.S328C

c.983C>G

Surrounding Variants

1 paper

NM_024675.4

p.S328F

c.983C>T

3 papers

NM_024675.4

p.S328Y

c.983C>A

1 paper

NM_024675.4

p.C327_S328delFs

c.981_982delAA

1 paper

NM_024675.4

p.C327W

c.981T>G

1 paper

NM_024675.4

p.L329L

c.985C>T

3 papers

NM_024675.4

p.L329V

c.985C>G

1 paper

NM_024675.4

p.S328delFs

c.984delA

1 paper

NM_024675.4

p.L329fs

c.985_986fs

1 paper

NM_024675.4

p.L329P

c.986T>C

3 papers

NM_024675.4

p.C327Y

c.980G>A

1 paper

NM_024675.4

p.C327_S328ins5

c.979_983ins15

1 paper

NM_024675.4

p.C327G

c.979T>G