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.S631P

c.1891T>C

Surrounding Variants

6 papers

NM_024675.4

p.K628_C630del0

c.1882_1890del9

1 paper

NM_024675.4

p.S631L

c.1892C>T

1 paper

NM_024675.4

p.C630delFs

c.1889delC

1 paper

NM_024675.4

p.C630insFs

c.1888dupT

1 paper

NM_024675.4

p.C630R

c.1888T>C

1 paper

NM_024675.4

p.S629S

c.1887C>T

4 papers

NM_024675.4

p.S629F

c.1886C>T

1 paper

NM_024675.4

p.E625_S629delFs

c.1873_1885del13

1 paper

NM_024675.4

p.E632D

c.1896A>T

1 paper

NM_024675.4

p.E632E

c.1896A>G

2 papers

NM_024675.4

p.K628N

c.1884G>T

2 papers

NM_024675.4

p.K628N

c.1884G>C