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.T243S

c.728C>G

Surrounding Variants

2 papers

NM_024675.4

p.T243I

c.728C>T

1 paper

NM_024675.4

p.T243T

c.729C>T

1 paper

NM_024675.4

p.T243S

c.727A>T

1 paper

NM_024675.4

p.T243A

c.727A>G

3 papers

NM_024675.4

p.T243P

c.727A>C

2 papers

NM_024675.4

p.F242delins

c.726delinsCCAT

1 paper

NM_024675.4

p.F242L

c.726C>G

2 papers

NM_024675.4

p.F242_T243insFs

c.726_727ins13

1 paper

NM_024675.4

p.F242L

c.726C>A

2 papers

NM_024675.4

p.R244G

c.730A>G

1 paper

NM_024675.4

p.R244R

c.730A>C

1 paper

NM_024675.4

p.N241_F242insFs

c.721_724dup4