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.L143Q

c.428T>A

Surrounding Variants

1 paper

NM_024675.4

p.L143R

c.428T>G

1 paper

NM_024675.4

p.L143P

c.428T>C

1 paper

NM_024675.4

p.L143delFs

c.427delG

4 papers

NM_024675.4

p.K142_L143Fs

c.426_428delinsCCFs

1 paper

NM_024675.4

p.L143L

c.429G>T

1 paper

NM_024675.4

p.L143delFs

c.428delA

1 paper

NM_024675.4

p.L143L

c.427C>T

1 paper

NM_024675.4

p.L143V

c.427C>G

1 paper

NM_024675.4

p.L143M

c.427C>A

1 paper

NM_024675.4

p.K142N

c.426G>T

1 paper

NM_024675.4

p.K142fs

c.424_425fs

1 paper

NM_024675.4

p.K142N

c.426G>C