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.D715G

c.2144A>G

Surrounding Variants

1 paper

NM_024675.4

p.D715E

c.2145T>G

1 paper

NM_024675.4

p.D715E

c.2145T>A

3 papers

NM_024675.4

p.D715fs

c.2143_2144fs

1 paper

NM_024675.4

p.D714_D715ins1

c.2142_2143insTAA

2 papers

NM_024675.4

p.D715N

c.2143G>A

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.N716D

c.2146A>G

1 paper

NM_024675.4

p.D715del1

c.2143_2145delATC

1 paper

NM_024675.4

p.N716S

c.2147A>G

1 paper

NM_024675.4

p.V711_N716insFs

c.2133_2146dup14

3 papers

NM_024675.4

p.D715_N716delFs

c.2145_2146delTA