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.S354fs

c.1060_1061fs

Surrounding Variants

1 paper

NM_024675.4

p.S354A

c.1060T>G

1 paper

NM_024675.4

p.S354T

c.1060T>A

22 papers

NM_024675.4

p.K353delFs

c.1059delT

1 paper

NM_024675.4

p.K353delFs

c.1057_1058delTT

2 papers

NM_024675.4

p.S354F

c.1061C>T

4 papers

NM_024675.4

p.S354C

c.1061C>G

4 papers

NM_024675.4

p.S354Y

c.1061C>A

1 paper

NM_024675.4

p.K353N

c.1059A>T

1 paper

NM_024675.4

p.K353K

c.1059A>G

1 paper

NM_024675.4

p.K353N

c.1059A>C

11 papers

NM_024675.4

p.K353fs

c.1057_1058fs

1 paper

NM_024675.4

p.K353I

c.1058A>T