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.I1031S

c.3092T>G

Surrounding Variants

1 paper

NM_024675.4

p.I1031V

c.3091A>G

1 paper

NM_024675.4

p.L1027_T1030del4

c.3079_3089del12

1 paper

NM_024675.4

p.M1032L

c.3094A>T

1 paper

NM_024675.4

p.M1032L

c.3094A>C

20 papers

NM_024675.4

p.T1030I

c.3089C>T

1 paper

NM_024675.4

p.T1030N

c.3089C>A

1 paper

NM_024675.4

p.M1032I

c.3096G>T

1 paper

NM_024675.4

p.M1032I

c.3096G>C

1 paper

NM_024675.4

p.M1032I

c.3096G>A

4 papers

NM_024675.4

p.T1030A

c.3088A>G

1 paper

NM_024675.4

p.T1029T

c.3087T>A

1 paper

NM_024675.4

p.N1033H

c.3097A>C