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.S133R

c.399T>G

Surrounding Variants

1 paper

NM_024675.4

p.S133R

c.399T>A

1 paper

NM_024675.4

p.R131_V132del2

c.391_395del6

1 paper

NM_024675.4

p.D134Y

c.400G>T

1 paper

NM_024675.4

p.S133I

c.398G>T

12 papers

NM_024675.4

p.S133T

c.398G>C

1 paper

NM_024675.4

p.D134H

c.400G>C

13 papers

NM_024675.4

p.D134N

c.400G>A

3 papers

NM_024675.4

p.S133N

c.398G>A

1 paper

NM_024675.4

p.S133fs

c.397_398fs

1 paper

NM_024675.4

p.D134V

c.401A>T

1 paper

NM_024675.4

p.S133C

c.397A>T

2 papers

NM_024675.4

p.D134G

c.401A>G