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.T720I

c.2159C>T

Surrounding Variants

1 paper

NM_024675.4

p.T720delFs

c.2158delT

1 paper

NM_024675.4

p.R718_P719del2

c.2152_2156del6

1 paper

NM_024675.4

p.T720T

c.2160C>T

1 paper

NM_024675.4

p.T720T

c.2160C>G

1 paper

NM_024675.4

p.T720_T721insFs

c.2160_2161insG

1 paper

NM_024675.4

p.T720P

c.2158A>C

1 paper

NM_024675.4

p.P719insFs

c.2157dupT

1 paper

NM_024675.4

p.P719delFs

c.2156delG

1 paper

NM_024675.4

p.T721I

c.2162C>T

1 paper

NM_024675.4

p.T720Fs

c.2160delinsCAGGAAFs

2 papers

NM_024675.4

p.T721delFs

c.2161delT

1 paper

NM_024675.4

p.R718delFs

c.2154delC