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.K908Q

c.2722A>C

Surrounding Variants

1 paper

NM_024675.4

p.K908E

c.2722A>G

1 paper

NM_024675.4

p.L901_E907del7

c.2701_2720del21

1 paper

NM_024675.4

p.K908I

c.2723A>T

1 paper

NM_024675.4

p.E907D

c.2721A>T

1 paper

NM_024675.4

p.K908R

c.2723A>G

1 paper

NM_024675.4

p.E907E

c.2721A>G

1 paper

NM_024675.4

p.K908T

c.2723A>C

1 paper

NM_024675.4

p.E907D

c.2721A>C

1 paper

NM_024675.4

p.K908N

c.2724A>T

1 paper

NM_024675.4

p.E907V

c.2720A>T

7 papers

NM_024675.4

p.E907G

c.2720A>G

1 paper

NM_024675.4

p.K908N

c.2724A>C