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.K231R

c.692A>G

Surrounding Variants

1 paper

NM_024675.4

p.K231I

c.692A>T

3 papers

NM_024675.4

p.K231*

c.691A>T

2 papers

NM_024675.4

p.K231N

c.693A>T

1 paper

NM_024675.4

p.K231E

c.691A>G

2 papers

NM_024675.4

p.K231N

c.693A>C

1 paper

NM_024675.4

p.K231fs

c.691_692fs

1 paper

NM_024675.4

p.E230_K231insFs

c.690_691ins16

7 papers

NM_024675.4

p.G232fs

c.694_695fs

1 paper

NM_024675.4

p.G232C

c.694G>T

2 papers

NM_024675.4

p.K231insFs

c.693dupA

2 papers

NM_024675.4

p.K231delFs

c.693delT

2 papers

NM_024675.4

p.G232V

c.695G>T