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.K974_R975delFs

c.2920_2923del4

Surrounding Variants

1 paper

NM_024675.4

p.R975M

c.2924G>T

1 paper

NM_024675.4

p.R975T

c.2924G>C

1 paper

NM_024675.4

p.R975K

c.2924G>A

3 papers

NM_024675.4

p.R975S

c.2925G>T

3 papers

NM_024675.4

p.R975S

c.2925G>C

1 paper

NM_024675.4

p.R975delFs

c.2923_2924delCT

1 paper

NM_024675.4

p.R975fs

c.2923_2924fs

1 paper

NM_024675.4

p.R975W

c.2923A>T

1 paper

NM_024675.4

p.R975G

c.2923A>G

3 papers

NM_024675.4

p.K974N

c.2922G>T

1 paper

NM_024675.4

p.K974fs

c.2920_2921fs

3 papers

NM_024675.4

p.K974N

c.2922G>C