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.E940D

c.2820A>C

Surrounding Variants

1 paper

NM_024675.4

p.E940D

c.2820A>T

1 paper

NM_024675.4

p.I941F

c.2821A>T

1 paper

NM_024675.4

p.E940V

c.2819A>T

5 papers

NM_024675.4

p.I941V

c.2821A>G

3 papers

NM_024675.4

p.E940G

c.2819A>G

1 paper

NM_024675.4

p.I941L

c.2821A>C

1 paper

NM_024675.4

p.E940A

c.2819A>C

1 paper

NM_024675.4

p.E940delFs

c.2818delC

1 paper

NM_024675.4

p.I941S

c.2822T>G

1 paper

NM_024675.4

p.I941T

c.2822T>C

1 paper

NM_024675.4

p.I941N

c.2822T>A

1 paper

NM_024675.4

p.E940Q

c.2818G>C