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

5 papers

NM_024675.4

p.N821Y

c.2461A>T

Surrounding Variants

1 paper

NM_024675.4

p.N821S

c.2462A>G

2 papers

NM_024675.4

p.K819delFs

c.2457delT

2 papers

NM_024675.4

p.Q822*

c.2464C>T

1 paper

NM_024675.4

p.Q822insFs

c.2464_2465insC

1 paper

NM_024675.4

p.Q822H

c.2466G>T

1 paper

NM_024675.4

p.Q822fs

c.2464_2465fs

1 paper

NM_024675.4

p.Q822H

c.2466G>C

1 paper

NM_024675.4

p.Q822Q

c.2466G>A

1 paper

NM_024675.4

p.T817_Q822delFs

c.2450_2465del16

2 papers

NM_024675.4

p.K819R

c.2456A>G

1 paper

NM_024675.4

p.K819insFs

c.2456_2457insC

1 paper

NM_024675.4

p.Q822delFs

c.2466delC