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.L1027F

c.3079C>T

Surrounding Variants

1 paper

NM_024675.4

p.L1027V

c.3079C>G

2 papers

NM_024675.4

p.L1027R

c.3080T>G

1 paper

NM_024675.4

p.L1026L

c.3078G>A

1 paper

NM_024675.4

p.L1026P

c.3077T>C

1 paper

NM_024675.4

p.G1028C

c.3082G>T

2 papers

NM_024675.4

p.G1028R

c.3082G>C

1 paper

NM_024675.4

p.L1027delFs

c.3081delA

2 papers

NM_024675.4

p.A1025_L1026delins

c.3075_3076delinsTT

1 paper

NM_024675.4

p.A1025A

c.3075T>C

1 paper

NM_024675.4

p.G1028V

c.3083G>T

1 paper

NM_024675.4

p.G1028D

c.3083G>A

1 paper

NM_024675.4

p.E1024_L1027del4

c.3070_3080del12