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.K685Q

c.2053A>C

Surrounding Variants

14 papers

NM_024675.4

p.P684delFs

c.2052delG

1 paper

NM_024675.4

p.P684P

c.2052C>T

1 paper

NM_024675.4

p.P684fs

c.2050_2051fs

2 papers

NM_024675.4

p.K685K

c.2055A>G

4 papers

NM_024675.4

p.R686fs

c.2056_2057fs

1 paper

NM_024675.4

p.H683fs

c.2047_2048fs

2 papers

NM_024675.4

p.H683delFs

c.2048delT

1 paper

NM_024675.4

p.R686K

c.2057G>A

2 papers

NM_024675.4

p.R686delFs

c.2056delT

2 papers

NM_024675.4

p.R686S

c.2058G>T

2 papers

NM_024675.4

p.R686fs

c.2056_2057fs

2 papers

NM_024675.4

p.R686S

c.2058G>C