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.F1090L

c.3268T>C

Surrounding Variants

3 papers

NM_024675.4

p.F1090fs

c.3268_3269fs

1 paper

NM_024675.4

p.F1090insFs

c.3269_3270insG

1 paper

NM_024675.4

p.F1090C

c.3269T>G

1 paper

NM_024675.4

p.F1090Y

c.3269T>A

4 papers

NM_024675.4

p.V1089_F1090delFs

c.3267_3268delAC

1 paper

NM_024675.4

p.F1090L

c.3270T>G

1 paper

NM_024675.4

p.F1090L

c.3270T>A

3 papers

NM_024675.4

p.P1088_V1089insFs

c.3264_3265insT

8 papers

NM_024675.4

p.Q1091*

c.3271C>T

1 paper

NM_024675.4

p.F1090insFs

c.3270dupT

1 paper

NM_024675.4

p.S1087insFs

c.3261dupC

2 papers

NM_024675.4

p.S1087delFs

c.3261delG