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.H276P

c.827A>C

Surrounding Variants

1 paper

NM_024675.4

p.H276Y

c.826C>T

2 papers

NM_024675.4

p.H276Q

c.828C>G

2 papers

NM_024675.4

p.H276fs

c.826_827fs

3 papers

NM_024675.4

p.H276insFs

c.827dupA

2 papers

NM_024675.4

p.H276Q

c.828C>A

1 paper

NM_024675.4

p.T275delFs

c.825delA

1 paper

NM_024675.4

p.E272_T275insFs

c.815_824dup10

3 papers

NM_024675.4

p.D277Y

c.829G>T

1 paper

NM_024675.4

p.D277H

c.829G>C

8 papers

NM_024675.4

p.D277N

c.829G>A

1 paper

NM_024675.4

p.T275I

c.824C>T

1 paper

NM_024675.4

p.T275S

c.824C>G