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.R476G

c.1426A>G

Surrounding Variants

4 papers

NM_024675.4

p.R476fs

c.1426_1427fs

1 paper

NM_024675.4

p.R476I

c.1427G>T

1 paper

NM_024675.4

p.R476T

c.1427G>C

4 papers

NM_024675.4

p.R476delFs

c.1426delT

6 papers

NM_024675.4

p.S475insFs

c.1424dupC

1 paper

NM_024675.4

p.S475fs

c.1423_1424fs

4 papers

NM_024675.4

p.S475delFs

c.1424delG

1 paper

NM_024675.4

p.S475L

c.1424C>T

6 papers

NM_024675.4

p.S475*

c.1424C>G

1 paper

NM_024675.4

p.S475insFs

c.1424_1425insAG

6 papers

NM_024675.4

p.S475*

c.1424C>A

1 paper

NM_024675.4

p.S474delFs

c.1422delA