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.G471insFs

c.1411_1412insT

Surrounding Variants

3 papers

NM_024675.4

p.G471R

c.1411G>C

3 papers

NM_024675.4

p.G471R

c.1411G>A

1 paper

NM_024675.4

p.C469_T470del2

c.1405_1409del6

1 paper

NM_024675.4

p.G471fs

c.1411_1412fs

1 paper

NM_024675.4

p.T470insFs

c.1409dupC

2 papers

NM_024675.4

p.T470delFs

c.1408delT

2 papers

NM_024675.4

p.G471G

c.1413A>G

4 papers

NM_024675.4

p.Q472*

c.1414C>T

1 paper

NM_024675.4

p.Q472K

c.1414C>A

1 paper

NM_024675.4

p.T470S

c.1408A>T

10 papers

NM_024675.4

p.T470A

c.1408A>G

1 paper

NM_024675.4

p.C469_T470Fs

c.1407_1408delinsGFs