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.Y910F

c.2729A>T

Surrounding Variants

1 paper

NM_024675.4

p.Y910C

c.2729A>G

1 paper

NM_024675.4

p.Y910S

c.2729A>C

1 paper

NM_024675.4

p.Y910delFs

c.2728delA

16 papers

NM_024675.4

p.L909_Y910delFs

c.2727_2728delAA

1 paper

NM_024675.4

p.Y910_T911insFs

c.2730_2731insAG

6 papers

NM_024675.4

p.Y910*

c.2730T>G

1 paper

NM_024675.4

p.Y910D

c.2728T>G

1 paper

NM_024675.4

p.Y910Y

c.2730T>C

1 paper

NM_024675.4

p.Y910H

c.2728T>C

6 papers

NM_024675.4

p.Y910*

c.2730T>A

1 paper

NM_024675.4

p.Y910N

c.2728T>A

2 papers

NM_024675.4

p.L909fs

c.2725_2726fs