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.G401D

c.1202G>A

Surrounding Variants

1 paper

NM_024675.4

p.G401V

c.1202G>T

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

1 paper

NM_024675.4

p.G401G

c.1203C>T

1 paper

NM_024675.4

p.G401delFs

c.1202delC

1 paper

NM_024675.4

p.G401fs

c.1201_1202fs

2 papers

NM_024675.4

p.L402F

c.1204C>T

1 paper

NM_024675.4

p.L402V

c.1204C>G

1 paper

NM_024675.4

p.L402I

c.1204C>A

1 paper

NM_024675.4

p.E400D

c.1200A>T

1 paper

NM_024675.4

p.E400D

c.1200A>C