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.V978D

c.2933T>A

Surrounding Variants

1 paper

NM_024675.4

p.V978fs

c.2932_2933fs

5 papers

NM_024675.4

p.L977insFs

c.2931dupA

1 paper

NM_024675.4

p.V978I

c.2932G>A

1 paper

NM_024675.4

p.L977R

c.2930T>G

1 paper

NM_024675.4

p.L977P

c.2930T>C

1 paper

NM_024675.4

p.L977Q

c.2930T>A

1 paper

NM_024675.4

p.S979I

c.2936G>T

1 paper

NM_024675.4

p.S979T

c.2936G>C

1 paper

NM_024675.4

p.S979S

c.2937T>C

3 papers

NM_024675.4

p.S979delFs

c.2936delC

1 paper

NM_024675.4

p.L977V

c.2929C>G

1 paper

NM_024675.4

p.L977I

c.2929C>A