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.F1071L

c.3213T>A

Surrounding Variants

1 paper

NM_024675.4

p.F1071L

c.3213T>G

1 paper

NM_024675.4

p.F1071F

c.3213T>C

1 paper

NM_024675.4

p.F1071L

c.3211T>C

1 paper

NM_024675.4

p.F1071I

c.3211T>A

1 paper

NM_024675.4

p.L1070L

c.3210C>T

1 paper

NM_024675.4

p.L1070L

c.3210C>G

11 papers

NM_024675.4

p.L1070P

c.3209T>C

1 paper

NM_024675.4

p.V1073F

c.3217G>T

1 paper

NM_024675.4

p.V1073A

c.3218T>C

1 paper

NM_024675.4

p.V1073V

c.3219C>G

1 paper

NM_024675.4

p.L1069R

c.3206T>G

1 paper

NM_024675.4

p.L1074L

c.3220C>T