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.L675L

c.2025T>C

Surrounding Variants

1 paper

NM_024675.4

p.L675L

c.2025T>G

1 paper

NM_024675.4

p.L675L

c.2025T>A

1 paper

NM_024675.4

p.L675R

c.2024T>G

1 paper

NM_024675.4

p.I676L

c.2026A>C

6 papers

NM_024675.4

p.I676T

c.2027T>C

1 paper

NM_024675.4

p.L675F

c.2023C>T

1 paper

NM_024675.4

p.I676I

c.2028T>C

1 paper

NM_024675.4

p.V677L

c.2029G>C

1 paper

NM_024675.4

p.D674G

c.2021A>G

2 papers

NM_024675.4

p.D674A

c.2021A>C

1 paper

NM_024675.4

p.D674delFs

c.2020delC

1 paper

NM_024675.4

p.V677delFs

c.2029delC