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.K633K

c.1899A>G

Surrounding Variants

2 papers

NM_024675.4

p.P634S

c.1900C>T

1 paper

NM_024675.4

p.K633delFs

c.1898delT

1 paper

NM_024675.4

p.P634L

c.1901C>T

1 paper

NM_024675.4

p.E632D

c.1896A>T

1 paper

NM_024675.4

p.P634P

c.1902A>G

1 paper

NM_024675.4

p.E632E

c.1896A>G

4 papers

NM_024675.4

p.V635V

c.1905G>A

1 paper

NM_024675.4

p.E636Q

c.1906G>C

1 paper

NM_024675.4

p.E636K

c.1906G>A

1 paper

NM_024675.4

p.S631L

c.1892C>T

1 paper

NM_024675.4

p.S631P

c.1891T>C

6 papers

NM_024675.4

p.K628_C630del0

c.1882_1890del9