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.S725*

c.2174C>G

Surrounding Variants

1 paper

NM_024675.4

p.S725*

c.2174C>A

1 paper

NM_024675.4

p.C724C

c.2172T>C

2 papers

NM_024675.4

p.P726_A727ins13

c.2176_2180ins39

1 paper

NM_024675.4

p.C724F

c.2171G>T

1 paper

NM_024675.4

p.C724Y

c.2171G>A

1 paper

NM_024675.4

p.P726P

c.2178T>C

1 paper

NM_024675.4

p.C724R

c.2170T>C

25 papers

NM_024675.4

p.M723fs

c.2167_2168fs

55 papers

NM_024675.4

p.M723delFs

c.2167_2168delAT

1 paper

NM_024675.4

p.A727V

c.2180C>T

1 paper

NM_024675.4

p.A727A

c.2181T>G

1 paper

NM_024675.4

p.A727A

c.2181T>C