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.D101H

c.301G>C

Surrounding Variants

3 papers

NM_024675.4

p.D101Y

c.301G>T

4 papers

NM_024675.4

p.D101N

c.301G>A

2 papers

NM_024675.4

p.L100L

c.300T>G

1 paper

NM_024675.4

p.L100L

c.300T>A

1 paper

NM_024675.4

p.D101V

c.302A>T

1 paper

NM_024675.4

p.D101G

c.302A>G

1 paper

NM_024675.4

p.D101A

c.302A>C

2 papers

NM_024675.4

p.D101fs

c.301_302fs

2 papers

NM_024675.4

p.D101E

c.303T>G

1 paper

NM_024675.4

p.L100R

c.299T>G

1 paper

NM_024675.4

p.D101D

c.303T>C

1 paper

NM_024675.4

p.L100P

c.299T>C