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

3 papers

NM_024675.4

p.Y1064F

c.3191A>T

Surrounding Variants

8 papers

NM_024675.4

p.Y1064C

c.3191A>G

1 paper

NM_024675.4

p.S1065A

c.3193T>G

2 papers

NM_024675.4

p.A1063_Y1064delFs

c.3189_3192del4

1 paper

NM_024675.4

p.H1061_A1063delFs

c.3183_3187del5

5 papers

NM_024675.4

p.S1065F

c.3194C>T

1 paper

NM_024675.4

p.A1063V

c.3188C>T

2 papers

NM_024675.4

p.S1065C

c.3194C>G

1 paper

NM_024675.4

p.K1062delFs

c.3186delT

1 paper

NM_024675.4

p.E1066Q

c.3196G>C

1 paper

NM_024675.4

p.K1062R

c.3185A>G

1 paper

NM_024675.4

p.K1062E

c.3184A>G

1 paper

NM_024675.4

p.M1067delFs

c.3199delT