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

2 papers

NM_024675.4

p.K177_I182del0

c.529_546del18

Surrounding Variants

1 paper

NM_024675.4

p.S183I

c.548G>T

1 paper

NM_024675.4

p.S183T

c.548G>C

1 paper

NM_024675.4

p.S183N

c.548G>A

1 paper

NM_024675.4

p.S183delFs

c.547delT

1 paper

NM_024675.4

p.R175_S183ins3

c.524_547dup24

1 paper

NM_024675.4

p.S183R

c.549T>G

1 paper

NM_024675.4

p.S183R

c.549T>A

1 paper

NM_024675.4

p.S183delFs

c.548delC

2 papers

NM_024675.4

p.S183fs

c.547_548fs

1 paper

NM_024675.4

p.E181_S183delFs

c.542_548del7

1 paper

NM_024675.4

p.S183C

c.547A>T

1 paper

NM_024675.4

p.S183G

c.547A>G