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.F994S

c.2981T>C

Surrounding Variants

2 papers

NM_024675.4

p.F994Y

c.2981T>A

21 papers

NM_024675.4

p.F994_A995insFs

c.2982_2983insT

1 paper

NM_024675.4

p.T993T

c.2979G>A

5 papers

NM_024675.4

p.A995fs

c.2983_2984fs

4 papers

NM_024675.4

p.T993M

c.2978C>T

1 paper

NM_024675.4

p.A995V

c.2984C>T

1 paper

NM_024675.4

p.A995A

c.2985A>T

10 papers

NM_024675.4

p.A995fs

c.2983_2984fs

1 paper

NM_024675.4

p.E996*

c.2986G>T

1 paper

NM_024675.4

p.M992insFs

c.2974_2975dupAT

2 papers

NM_024675.4

p.E996K

c.2986G>A

1 paper

NM_024675.4

p.M992delFs

c.2974_2975delAT