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.I1093V

c.3277A>G

Surrounding Variants

1 paper

NM_024675.4

p.I1093F

c.3277A>T

6 papers

NM_024675.4

p.I1093T

c.3278T>C

2 papers

NM_024675.4

p.L1092L

c.3276C>T

1 paper

NM_024675.4

p.L1092L

c.3276C>G

1 paper

NM_024675.4

p.L1092L

c.3276C>A

1 paper

NM_024675.4

p.I1093fs

c.3277_3278fs

1 paper

NM_024675.4

p.I1093I

c.3279T>C

1 paper

NM_024675.4

p.L1092P

c.3275T>C

1 paper

NM_024675.4

p.I1093delFs

c.3279delA

2 papers

NM_024675.4

p.Q1091fs

c.3271_3272fs

1 paper

NM_024675.4

p.Q1091Q

c.3273G>A

1 paper

NM_024675.4

p.V1094V

c.3282G>A