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.D1168D

c.3504C>T

Surrounding Variants

1 paper

NM_024675.4

p.D1168G

c.3503A>G

1 paper

NM_024675.4

p.S1169C

c.3506C>G

1 paper

NM_024675.4

p.D1168fs

c.3502_3503fs

2 papers

NM_024675.4

p.S1169fs

c.3505_3506fs

12 papers

NM_024675.4

p.H1170fs

c.3508_3509fs

20 papers

NM_024675.4

p.H1170Y

c.3508C>T

2 papers

NM_024675.4

p.T1167I

c.3500C>T

2 papers

NM_024675.4

p.H1170R

c.3509A>G

1 paper

NM_024675.4

p.T1167P

c.3499A>C

1 paper

NM_024675.4

p.G1166delFs

c.3497_3498delAC

21 papers

NM_024675.4

p.S1169_H1170delFs

c.3507_3508delGA

5 papers

NM_024675.4

p.G1166fs

c.3496_3497fs