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.V895G

c.2684T>G

Surrounding Variants

1 paper

NM_024675.4

p.V895A

c.2684T>C

1 paper

NM_024675.4

p.V895D

c.2684T>A

1 paper

NM_024675.4

p.V895F

c.2683G>T

1 paper

NM_024675.4

p.V895L

c.2683G>C

2 papers

NM_024675.4

p.V895I

c.2683G>A

1 paper

NM_024675.4

p.V894delFs

c.2681_2682delTA

1 paper

NM_024675.4

p.I887_V894del8

c.2659_2681del24

1 paper

NM_024675.4

p.S896_L897insG

c.2686_2690ins3

1 paper

NM_024675.4

p.S896insFs

c.2686_2687insA

1 paper

NM_024675.4

p.S896A

c.2686T>G

1 paper

NM_024675.4

p.S896P

c.2686T>C

1 paper

NM_024675.4

p.S896T

c.2686T>A