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.P713L

c.2138C>T

Surrounding Variants

1 paper

NM_024675.4

p.P713H

c.2138C>A

1 paper

NM_024675.4

p.P713fs

c.2137_2138fs

1 paper

NM_024675.4

p.P713S

c.2137C>T

1 paper

NM_024675.4

p.A712A

c.2136G>C

5 papers

NM_024675.4

p.A712A

c.2136G>A

1 paper

NM_024675.4

p.D714N

c.2140G>A

18 papers

NM_024675.4

p.A712V

c.2135C>T

1 paper

NM_024675.4

p.D714E

c.2142T>G

1 paper

NM_024675.4

p.D714E

c.2142T>A

1 paper

NM_024675.4

p.V711insFs

c.2132dupT

1 paper

NM_024675.4

p.V711V

c.2133T>G

3 papers

NM_024675.4

p.D715fs

c.2143_2144fs