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.D89H

c.265G>C

Surrounding Variants

1 paper

NM_024675.4

p.D89Y

c.265G>T

1 paper

NM_024675.4

p.D89N

c.265G>A

1 paper

NM_024675.4

p.H83_L88del6

c.247_263del18

2 papers

NM_024675.4

p.L88L

c.264T>C

2 papers

NM_024675.4

p.L88delFs

c.262_263delAG

1 paper

NM_024675.4

p.D89V

c.266A>T

1 paper

NM_024675.4

p.D89G

c.266A>G

1 paper

NM_024675.4

p.D89A

c.266A>C

1 paper

NM_024675.4

p.D89E

c.267T>G

1 paper

NM_024675.4

p.L88R

c.263T>G

1 paper

NM_024675.4

p.L88P

c.263T>C

2 papers

NM_024675.4

p.L88H

c.263T>A