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

2 papers

NM_024675.4

p.K268T

c.803A>C

Surrounding Variants

1 paper

NM_024675.4

p.K268R

c.803A>G

3 papers

NM_024675.4

p.K268N

c.804A>T

1 paper

NM_024675.4

p.K268E

c.802A>G

2 papers

NM_024675.4

p.K268N

c.804A>C

1 paper

NM_024675.4

p.G269C

c.805G>T

1 paper

NM_024675.4

p.K268delFs

c.802_803delTT

1 paper

NM_024675.4

p.P267_K268del2

c.799_803del6

1 paper

NM_024675.4

p.G269V

c.806G>T

1 paper

NM_024675.4

p.G269A

c.806G>C

1 paper

NM_024675.4

p.G269D

c.806G>A

1 paper

NM_024675.4

p.P267L

c.800C>T

3 papers

NM_024675.4

p.P266_P267delFs

c.798_799delGA