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.T1042fs

c.3124_3125fs

Surrounding Variants

1 paper

NM_024675.4

p.N1039_L1040del2

c.3115_3119del6

1 paper

NM_024675.4

p.T1042T

c.3126T>G

13 papers

NM_024675.4

p.K1041T

c.3122A>C

1 paper

NM_024675.4

p.T1042delFs

c.3126delA

2 papers

NM_024675.4

p.K1041*

c.3121A>T

1 paper

NM_024675.4

p.K1041E

c.3121A>G

1 paper

NM_024675.4

p.G1043V

c.3128G>T

11 papers

NM_024675.4

p.G1043A

c.3128G>C

6 papers

NM_024675.4

p.G1043D

c.3128G>A

1 paper

NM_024675.4

p.W1038_L1040del0

c.3114_3119del6

1 paper

NM_024675.4

p.G1043G

c.3129T>G

2 papers

NM_024675.4

p.L1040S

c.3119T>C