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.P187A

c.559C>G

Surrounding Variants

1 paper

NM_024675.4

p.P187S

c.559C>T

1 paper

NM_024675.4

p.P187T

c.559C>A

3 papers

NM_024675.4

p.N186insFs

c.557dupA

1 paper

NM_024675.4

p.N186K

c.558T>G

1 paper

NM_024675.4

p.N186K

c.558T>A

1 paper

NM_024675.4

p.N186delFs

c.557delT

2 papers

NM_024675.4

p.P187L

c.560C>T

1 paper

NM_024675.4

p.P187R

c.560C>G

4 papers

NM_024675.4

p.P187H

c.560C>A

1 paper

NM_024675.4

p.P187fs

c.559_560fs

2 papers

NM_024675.4

p.P187delFs

c.560delG

5 papers

NM_024675.4

p.N186I

c.557A>T