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.P191L

c.572C>T

Surrounding Variants

1 paper

NM_024675.4

p.P191R

c.572C>G

1 paper

NM_024675.4

p.P191Q

c.572C>A

2 papers

NM_024675.4

p.P191S

c.571C>T

3 papers

NM_024675.4

p.P191A

c.571C>G

1 paper

NM_024675.4

p.P191T

c.571C>A

1 paper

NM_024675.4

p.V192L

c.574G>T

1 paper

NM_024675.4

p.V192L

c.574G>C

1 paper

NM_024675.4

p.V192I

c.574G>A

1 paper

NM_024675.4

p.P191delFs

c.573delT

1 paper

NM_024675.4

p.S190S

c.570A>G

1 paper

NM_024675.4

p.S190S

c.570A>C

1 paper

NM_024675.4

p.V192G

c.575T>G