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.N336H

c.1006A>C

Surrounding Variants

1 paper

NM_024675.4

p.N336D

c.1006A>G

1 paper

NM_024675.4

p.Y334_N335delFs

c.1002_1005del4

1 paper

NM_024675.4

p.N335K

c.1005T>G

1 paper

NM_024675.4

p.N335K

c.1005T>A

1 paper

NM_024675.4

p.N336N

c.1008C>T

2 papers

NM_024675.4

p.N336fs

c.1006_1007fs

1 paper

NM_024675.4

p.N336delFs

c.1007delT

1 paper

NM_024675.4

p.N335I

c.1004A>T

4 papers

NM_024675.4

p.N335S

c.1004A>G

1 paper

NM_024675.4

p.L337_P338insGTC

c.1009_1013ins9

1 paper

NM_024675.4

p.N335Fs

c.1003delinsGAFs

2 papers

NM_024675.4

p.L337fs

c.1009_1010fs