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.M664L

c.1990A>T

Surrounding Variants

1 paper

NM_024675.4

p.M664L

c.1990A>C

1 paper

NM_024675.4

p.M664K

c.1991T>A

1 paper

NM_024675.4

p.M664delFs

c.1990delT

2 papers

NM_024675.4

p.R663insFs

c.1988dupG

1 paper

NM_024675.4

p.R663L

c.1988G>T

2 papers

NM_024675.4

p.M664fs

c.1990_1991fs

2 papers

NM_024675.4

p.R663H

c.1988G>A

7 papers

NM_024675.4

p.R663C

c.1987C>T

1 paper

NM_024675.4

p.D665fs

c.1993_1994fs

1 paper

NM_024675.4

p.D665delFs

c.1993_1994delTC

5 papers

NM_024675.4

p.K662*

c.1984A>T

1 paper

NM_024675.4

p.T666S

c.1996A>T