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.K422_E426del0

c.1266_1277del12

Surrounding Variants

1 paper

NM_024675.4

p.E426D

c.1278G>T

1 paper

NM_024675.4

p.E426D

c.1278G>C

1 paper

NM_024675.4

p.E426E

c.1278G>A

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

2 papers

NM_024675.4

p.E426Q

c.1276G>C

2 papers

NM_024675.4

p.E426K

c.1276G>A

2 papers

NM_024675.4

p.A427V

c.1280C>T

1 paper

NM_024675.4

p.A427G

c.1280C>G

2 papers

NM_024675.4

p.A427A

c.1281T>C

1 paper

NM_024675.4

p.V425V

c.1275G>A