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

6 papers

NM_024675.4

p.F440fs

c.1318_1319fs

Surrounding Variants

1 paper

NM_024675.4

p.F440L

c.1320T>G

1 paper

NM_024675.4

p.F440L

c.1320T>A

1 paper

NM_024675.4

p.K441*

c.1321A>T

1 paper

NM_024675.4

p.K441E

c.1321A>G

1 paper

NM_024675.4

p.G439insFs

c.1317dupG

1 paper

NM_024675.4

p.F440L

c.1318T>C

15 papers

NM_024675.4

p.F440fs

c.1318_1319fs

31 papers

NM_024675.4

p.G439delFs

c.1317delC

1 paper

NM_024675.4

p.F440_K441delFs

c.1320_1321delTA

8 papers

NM_024675.4

p.G439fs

c.1315_1316fs

1 paper

NM_024675.4

p.G439G

c.1317G>A

1 paper

NM_024675.4

p.K441N

c.1323A>T