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.L176Q

c.527T>A

Surrounding Variants

1 paper

NM_024675.4

p.L176R

c.527T>G

3 papers

NM_024675.4

p.L176P

c.527T>C

1 paper

NM_024675.4

p.L176L

c.526C>T

1 paper

NM_024675.4

p.L176V

c.526C>G

2 papers

NM_024675.4

p.L176I

c.526C>A

45 papers

NM_024675.4

p.S172_R175del4

c.514_524del12

1 paper

NM_024675.4

p.L176L

c.528A>T

1 paper

NM_024675.4

p.L176fs

c.526_527fs

1 paper

NM_024675.4

p.K177*

c.529A>T

1 paper

NM_024675.4

p.R175S

c.525A>T

2 papers

NM_024675.4

p.K177E

c.529A>G

1 paper

NM_024675.4

p.R175R

c.525A>G