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.R718W

c.2152A>T

Surrounding Variants

1 paper

NM_024675.4

p.D717D

c.2151C>T

2 papers

NM_024675.4

p.D715_N716del2

c.2143_2147del6

2 papers

NM_024675.4

p.D717G

c.2150A>G

2 papers

NM_024675.4

p.D717N

c.2149G>A

1 paper

NM_024675.4

p.R718delFs

c.2154delC

1 paper

NM_024675.4

p.N716fs

c.2146_2147fs

3 papers

NM_024675.4

p.N716K

c.2148T>G

1 paper

NM_024675.4

p.N716N

c.2148T>C

3 papers

NM_024675.4

p.N716K

c.2148T>A

1 paper

NM_024675.4

p.N716delFs

c.2147delT

1 paper

NM_024675.4

p.P719delFs

c.2156delG

1 paper

NM_024675.4

p.N716S

c.2147A>G