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.S1155S

c.3465T>C

Surrounding Variants

1 paper

NM_024675.4

p.S1155insFs

c.3465dupT

1 paper

NM_024675.4

p.S1155delFs

c.3464_3465delAG

1 paper

NM_024675.4

p.P1152_S1155del4

c.3454_3464del12

4 papers

NM_024675.4

p.S1155C

c.3464C>G

1 paper

NM_024675.4

p.V1154delFs

c.3462delG

1 paper

NM_024675.4

p.D1156A

c.3467A>C

1 paper

NM_024675.4

p.V1154_S1155del2

c.3460_3464del6

3 papers

NM_024675.4

p.Q1157*

c.3469C>T

1 paper

NM_024675.4

p.Q1157fs

c.3469_3470fs

1 paper

NM_024675.4

p.V1154I

c.3460G>A

1 paper

NM_024675.4

p.P1153fs

c.3457_3458fs

1 paper

NM_024675.4

p.H1158Y

c.3472C>T