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.V428F

c.1282G>T

Surrounding Variants

2 papers

NM_024675.4

p.A427A

c.1281T>C

1 paper

NM_024675.4

p.V428A

c.1283T>C

2 papers

NM_024675.4

p.A427V

c.1280C>T

1 paper

NM_024675.4

p.V428V

c.1284C>T

1 paper

NM_024675.4

p.A427G

c.1280C>G

1 paper

NM_024675.4

p.V428_I429insFs

c.1284_1285insT

1 paper

NM_024675.4

p.V428fs

c.1282_1283fs

1 paper

NM_024675.4

p.V428delFs

c.1282_1283delAC

1 paper

NM_024675.4

p.A427S

c.1279G>T

2 papers

NM_024675.4

p.A427P

c.1279G>C

1 paper

NM_024675.4

p.A427T

c.1279G>A

1 paper

NM_024675.4

p.I429V

c.1285A>G