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.S97P

c.289T>C

Surrounding Variants

1 paper

NM_024675.4

p.S97_I98insC

c.289_293ins3

1 paper

NM_024675.4

p.S97A

c.289T>G

1 paper

NM_024675.4

p.S97T

c.289T>A

4 papers

NM_024675.4

p.S97F

c.290C>T

1 paper

NM_024675.4

p.S97C

c.290C>G

3 papers

NM_024675.4

p.S97Y

c.290C>A

1 paper

NM_024675.4

p.T96T

c.288A>G

1 paper

NM_024675.4

p.T96T

c.288A>C

1 paper

NM_024675.4

p.S97S

c.291T>G

2 papers

NM_024675.4

p.T96I

c.287C>T

1 paper

NM_024675.4

p.T96R

c.287C>G

2 papers

NM_024675.4

p.T96K

c.287C>A