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

1–12 of 7290 variants

158 papers

NM_024675.4

p.L531delFs

c.1592delA

140 papers

NM_024675.4

p.R170delFs

c.509_510delTC

131 papers

NM_024675.4

p.W1038*

c.3113G>A

127 papers

NM_024675.4

p.W1038*

c.3113G>A

118 papers

NM_024675.4

p.L58_S59delFs

c.172_175del4

110 papers

NM_024675.4

p.W1038*

c.3114G>A

109 papers

NM_024675.4

p.R753*

c.2257C>T

92 papers

NM_024675.4

p.Y1183*

c.3549C>G

91 papers

NM_024675.4

p.R414*

c.1240C>T

89 papers

NM_024675.4

p.G998E

c.2993G>A

87 papers

NM_024675.4

p.Q559R

c.1676A>G

85 papers

NM_024675.4

p.Y1183*

c.3549C>A