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.G137A

c.410G>C

Surrounding Variants

1 paper

NM_024675.4

p.G137V

c.410G>T

3 papers

NM_024675.4

p.G137D

c.410G>A

2 papers

NM_024675.4

p.G137C

c.409G>T

1 paper

NM_024675.4

p.G137R

c.409G>C

1 paper

NM_024675.4

p.G137S

c.409G>A

2 papers

NM_024675.4

p.S136fs

c.406_407fs

1 paper

NM_024675.4

p.S136R

c.408T>G

1 paper

NM_024675.4

p.S136R

c.408T>A

1 paper

NM_024675.4

p.E138Q

c.412G>C

1 paper

NM_024675.4

p.E138K

c.412G>A

1 paper

NM_024675.4

p.S136_G137del2

c.406_410del6

1 paper

NM_024675.4

p.S136I

c.407G>T