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.V991A

c.2972T>C

Surrounding Variants

1 paper

NM_024675.4

p.V991G

c.2972T>G

2 papers

NM_024675.4

p.V991F

c.2971G>T

1 paper

NM_024675.4

p.V991I

c.2971G>A

1 paper

NM_024675.4

p.V991V

c.2973C>T

1 paper

NM_024675.4

p.M992fs

c.2974_2975fs

1 paper

NM_024675.4

p.E990E

c.2970A>G

1 paper

NM_024675.4

p.V989_V991del3

c.2965_2972del9

1 paper

NM_024675.4

p.M992K

c.2975T>A

1 paper

NM_024675.4

p.V989_E990del1

c.2966_2968delCTA

31 papers

NM_024675.4

p.E990*

c.2968G>T

1 paper

NM_024675.4

p.M992insFs

c.2974_2975dupAT

1 paper

NM_024675.4

p.E990K

c.2968G>A