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.H130D

c.388C>G

Surrounding Variants

4 papers

NM_024675.4

p.H130Y

c.388C>T

1 paper

NM_024675.4

p.H130N

c.388C>A

1 paper

NM_024675.4

p.H130fs

c.388_389fs

1 paper

NM_024675.4

p.P129P

c.387C>T

3 papers

NM_024675.4

p.H130L

c.389A>T

1 paper

NM_024675.4

p.H130R

c.389A>G

2 papers

NM_024675.4

p.H130P

c.389A>C

2 papers

NM_024675.4

p.P129delFs

c.385delG

1 paper

NM_024675.4

p.P129L

c.386C>T

3 papers

NM_024675.4

p.H130Q

c.390C>G

1 paper

NM_024675.4

p.P129R

c.386C>G

4 papers

NM_024675.4

p.H130_R131insFs

c.390_391insT