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.A391A

c.1173A>G

Surrounding Variants

1 paper

NM_024675.4

p.E392*

c.1174G>T

2 papers

NM_024675.4

p.E392Q

c.1174G>C

1 paper

NM_024675.4

p.A391E

c.1172C>A

3 papers

NM_024675.4

p.A391S

c.1171G>T

1 paper

NM_024675.4

p.A391T

c.1171G>A

1 paper

NM_024675.4

p.S390delFs

c.1170delA

2 papers

NM_024675.4

p.E392G

c.1175A>G

1 paper

NM_024675.4

p.S390fs

c.1168_1169fs

1 paper

NM_024675.4

p.E392D

c.1176A>T

1 paper

NM_024675.4

p.E392D

c.1176A>C

2 papers

NM_024675.4

p.S390F

c.1169C>T

2 papers

NM_024675.4

p.S390C

c.1169C>G