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.N1003fs

c.3007_3008fs

Surrounding Variants

1 paper

NM_024675.4

p.N1003N

c.3009C>T

1 paper

NM_024675.4

p.N1003delFs

c.3008delT

2 papers

NM_024675.4

p.Q1004*

c.3010C>T

1 paper

NM_024675.4

p.Q1004K

c.3010C>A

3 papers

NM_024675.4

p.E1002_N1003delFs

c.3004_3007del4

1 paper

NM_024675.4

p.E1002E

c.3006A>G

2 papers

NM_024675.4

p.F1005S

c.3014T>C

2 papers

NM_024675.4

p.E1002*

c.3004G>T

3 papers

NM_024675.4

p.E1002fs

c.3004_3005fs

1 paper

NM_024675.4

p.L1006insFs

c.3016_3017insC

1 paper

NM_024675.4

p.L1006L

c.3016T>C

1 paper

NM_024675.4

p.E1002_F1005del4

c.3004_3014del12