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.T911S

c.2731A>T

Surrounding Variants

4 papers

NM_024675.4

p.T911fs

c.2731_2732fs

1 paper

NM_024675.4

p.T911A

c.2731A>G

2 papers

NM_024675.4

p.T911P

c.2731A>C

1 paper

NM_024675.4

p.T911_W912insA

c.2731_2735ins3

1 paper

NM_024675.4

p.Y910_T911insFs

c.2730_2731insAG

6 papers

NM_024675.4

p.Y910*

c.2730T>G

1 paper

NM_024675.4

p.Y910Y

c.2730T>C

6 papers

NM_024675.4

p.Y910*

c.2730T>A

5 papers

NM_024675.4

p.T911I

c.2732C>T

1 paper

NM_024675.4

p.T911S

c.2732C>G

1 paper

NM_024675.4

p.T911N

c.2732C>A

1 paper

NM_024675.4

p.T911T

c.2733C>T