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

25 papers

NM_024675.4

p.Q559*

c.1675C>T

Surrounding Variants

1 paper

NM_024675.4

p.I558insFs

c.1674dupT

1 paper

NM_024675.4

p.I558_Q559insFs

c.1674_1675ins4

1 paper

NM_024675.4

p.Q559ins13

c.1675_1676ins39

1 paper

NM_024675.4

p.Q559insFs

c.1675_1676insGA

1 paper

NM_024675.4

p.Q559insFs

c.1675_1676ins13

1 paper

NM_024675.4

p.Q559insFs

c.1675_1676ins8

1 paper

NM_024675.4

p.Q559K

c.1675C>A

11 papers

NM_024675.4

p.F557_I558delFs

c.1671_1674del4

3 papers

NM_024675.4

p.Q559fs

c.1675_1676fs

3 papers

NM_024675.4

p.I558fs

c.1672_1673fs

87 papers

NM_024675.4

p.Q559R

c.1676A>G

2 papers

NM_024675.4

p.Q559P

c.1676A>C