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.S489_P490del0

c.1465_1470del6

Surrounding Variants

6 papers

NM_024675.4

p.A491T

c.1471G>A

9 papers

NM_024675.4

p.P490P

c.1470C>T

1 paper

NM_024675.4

p.P490P

c.1470C>G

1 paper

NM_024675.4

p.G492W

c.1474G>T

1 paper

NM_024675.4

p.P490S

c.1468C>T

1 paper

NM_024675.4

p.P490A

c.1468C>G

1 paper

NM_024675.4

p.S489_P490insFs

c.1467_1468ins4

1 paper

NM_024675.4

p.P490fs

c.1468_1469fs

1 paper

NM_024675.4

p.G492V

c.1475G>T

1 paper

NM_024675.4

p.G492G

c.1476G>T

1 paper

NM_024675.4

p.S489C

c.1466C>G

1 paper

NM_024675.4

p.S489delFs

c.1465delA