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.V872A

c.2615T>C

Surrounding Variants

1 paper

NM_024675.4

p.V872G

c.2615T>G

1 paper

NM_024675.4

p.V872E

c.2615T>A

1 paper

NM_024675.4

p.V872L

c.2614G>T

1 paper

NM_024675.4

p.V872L

c.2614G>C

3 papers

NM_024675.4

p.V872M

c.2614G>A

1 paper

NM_024675.4

p.D871E

c.2613T>G

1 paper

NM_024675.4

p.D871D

c.2613T>C

1 paper

NM_024675.4

p.D871E

c.2613T>A

1 paper

NM_024675.4

p.N863_D871delFs

c.2587_2611del25

1 paper

NM_024675.4

p.S873C

c.2617A>T

1 paper

NM_024675.4

p.S873G

c.2617A>G

5 papers

NM_024675.4

p.S873R

c.2617A>C