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.I48S

c.143T>G

Surrounding Variants

1 paper

NM_024675.4

p.I48T

c.143T>C

1 paper

NM_024675.4

p.I48N

c.143T>A

1 paper

NM_024675.4

p.I48M

c.144T>G

2 papers

NM_024675.4

p.I48F

c.142A>T

2 papers

NM_024675.4

p.I48V

c.142A>G

1 paper

NM_024675.4

p.I48L

c.142A>C

1 paper

NM_024675.4

p.K49E

c.145A>G

1 paper

NM_024675.4

p.K49Q

c.145A>C

2 papers

NM_024675.4

p.S47F

c.140C>T

1 paper

NM_024675.4

p.S47C

c.140C>G

1 paper

NM_024675.4

p.S47Y

c.140C>A

2 papers

NM_024675.4

p.K49M

c.146A>T