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

3 papers

NM_024675.4

p.E400K

c.1198G>A

Surrounding Variants

1 paper

NM_024675.4

p.E400*

c.1198G>T

1 paper

NM_024675.4

p.E400G

c.1199A>G

1 paper

NM_024675.4

p.P399L

c.1196C>T

2 papers

NM_024675.4

p.P399insFs

c.1196_1197ins7

1 paper

NM_024675.4

p.P399H

c.1196C>A

1 paper

NM_024675.4

p.E400D

c.1200A>T

1 paper

NM_024675.4

p.E400D

c.1200A>C

1 paper

NM_024675.4

p.E400fs

c.1198_1199fs

1 paper

NM_024675.4

p.P399fs

c.1195_1196fs

2 papers

NM_024675.4

p.G401_L402ins5

c.1201_1205ins15

2 papers

NM_024675.4

p.G401R

c.1201G>C

1 paper

NM_024675.4

p.G401S

c.1201G>A