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

2 papers

NM_024675.4

p.L1045L

c.3135C>T

Surrounding Variants

3 papers

NM_024675.4

p.L1045H

c.3134T>A

1 paper

NM_024675.4

p.L1046L

c.3136C>T

2 papers

NM_024675.4

p.L1045F

c.3133C>T

1 paper

NM_024675.4

p.L1046L

c.3138G>A

4 papers

NM_024675.4

p.Q1044H

c.3132A>T

1 paper

NM_024675.4

p.Q1044Q

c.3132A>G

4 papers

NM_024675.4

p.Q1044H

c.3132A>C

1 paper

NM_024675.4

p.K1047*

c.3139A>T

3 papers

NM_024675.4

p.K1047E

c.3139A>G

3 papers

NM_024675.4

p.Q1044*

c.3130C>T

1 paper

NM_024675.4

p.Q1044K

c.3130C>A

1 paper

NM_024675.4

p.K1047R

c.3140A>G