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.Q36_R37Splc

c.109-4C>G

Surrounding Variants

1 paper

NM_024675.4

p.Q36_R37Splc

c.109-4C>T

1 paper

NM_024675.4

p.Q36_R37Splc

c.109-5T>C

14 papers

NM_024675.4

p.Q36_R37Splc

c.109-2A>G

4 papers

NM_024675.4

p.Q36_R37Splc

c.109-2A>C

4 papers

NM_024675.4

p.Q36_R37Splc

c.109-1G>A

2 papers

NM_024675.4

p.Q36_R37Splc

c.109-7C>T

2 papers

NM_024675.4

p.Q36_R37Splc

c.109-7C>A

1 paper

NM_024675.4

p.Q36_R37Splc

c.109-8T>C

4 papers

NM_024675.4

p.R37fs

c.109_110fs

13 papers

NM_024675.4

p.R37C

c.109C>T

4 papers

NM_024675.4

p.R37G

c.109C>G

9 papers

NM_024675.4

p.R37S

c.109C>A