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

2 papers

NM_024675.4

p.K379E

c.1135A>G

Surrounding Variants

2 papers

NM_024675.4

p.K379*

c.1135A>T

1 paper

NM_024675.4

p.P378fs

c.1132_1133fs

1 paper

NM_024675.4

p.P378P

c.1134T>G

3 papers

NM_024675.4

p.P378delFs

c.1133delG

2 papers

NM_024675.4

p.K379N

c.1137G>T

2 papers

NM_024675.4

p.K379insFs

c.1135_1136insA

2 papers

NM_024675.4

p.K379N

c.1137G>C

1 paper

NM_024675.4

p.K379K

c.1137G>A

2 papers

NM_024675.4

p.P378L

c.1133C>T

1 paper

NM_024675.4

p.P378R

c.1133C>G

2 papers

NM_024675.4

p.P378H

c.1133C>A

2 papers

NM_024675.4

p.P378T

c.1132C>A