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.P135fs

c.403_404fs

Surrounding Variants

3 papers

NM_024675.4

p.P135S

c.403C>T

1 paper

NM_024675.4

p.P135A

c.403C>G

1 paper

NM_024675.4

p.P135T

c.403C>A

1 paper

NM_024675.4

p.P135L

c.404C>T

1 paper

NM_024675.4

p.P135R

c.404C>G

1 paper

NM_024675.4

p.D134E

c.402C>G

2 papers

NM_024675.4

p.P135H

c.404C>A

1 paper

NM_024675.4

p.D134E

c.402C>A

2 papers

NM_024675.4

p.P135P

c.405T>C

1 paper

NM_024675.4

p.D134V

c.401A>T

2 papers

NM_024675.4

p.D134G

c.401A>G

1 paper

NM_024675.4

p.D134A

c.401A>C