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.L381R

c.1142T>G

Surrounding Variants

1 paper

NM_024675.4

p.S380_L381insFs

c.1139_1142dup4

1 paper

NM_024675.4

p.L381fs

c.1141_1142fs

1 paper

NM_024675.4

p.L381fs

c.1141_1142fs

1 paper

NM_024675.4

p.L381F

c.1141C>T

1 paper

NM_024675.4

p.L381V

c.1141C>G

3 papers

NM_024675.4

p.S380fs

c.1138_1139fs

2 papers

NM_024675.4

p.S382R

c.1144A>C

3 papers

NM_024675.4

p.L381delFs

c.1142_1143delAA

5 papers

NM_024675.4

p.S380_L381delFs

c.1140_1143del4

7 papers

NM_024675.4

p.S382I

c.1145G>T

1 paper

NM_024675.4

p.S380I

c.1139G>T

4 papers

NM_024675.4

p.S382T

c.1145G>C