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.K436R

c.1307A>G

Surrounding Variants

1 paper

NM_024675.4

p.D434_K436delFs

c.1302_1306del5

2 papers

NM_024675.4

p.K436N

c.1308G>T

1 paper

NM_024675.4

p.K436insFs

c.1306_1307dupAA

2 papers

NM_024675.4

p.K436N

c.1308G>C

1 paper

NM_024675.4

p.K436E

c.1306A>G

1 paper

NM_024675.4

p.V435V

c.1305C>T

4 papers

NM_024675.4

p.K437E

c.1309A>G

1 paper

NM_024675.4

p.K437Q

c.1309A>C

2 papers

NM_024675.4

p.K437fs

c.1309_1310fs

1 paper

NM_024675.4

p.V435A

c.1304T>C

1 paper

NM_024675.4

p.K437R

c.1310A>G

1 paper

NM_024675.4

p.K436_K437delFs

c.1308_1309delTC