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.E878fs

c.2632_2633fs

Surrounding Variants

1 paper

NM_024675.4

p.E878D

c.2634A>T

1 paper

NM_024675.4

p.E878D

c.2634A>C

1 paper

NM_024675.4

p.R879*

c.2635A>T

1 paper

NM_024675.4

p.E878V

c.2633A>T

1 paper

NM_024675.4

p.R879G

c.2635A>G

1 paper

NM_024675.4

p.E878G

c.2633A>G

1 paper

NM_024675.4

p.E878A

c.2633A>C

1 paper

NM_024675.4

p.R879I

c.2636G>T

1 paper

NM_024675.4

p.E878*

c.2632G>T

1 paper

NM_024675.4

p.R879T

c.2636G>C

1 paper

NM_024675.4

p.E878Q

c.2632G>C

1 paper

NM_024675.4

p.R879K

c.2636G>A