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.H786H

c.2358T>C

Surrounding Variants

11 papers

NM_024675.4

p.T787I

c.2360C>T

2 papers

NM_024675.4

p.P785delFs

c.2353_2354delGG

1 paper

NM_024675.4

p.P785L

c.2354C>T

2 papers

NM_024675.4

p.P785S

c.2353C>T

1 paper

NM_024675.4

p.P785fs

c.2353_2354fs

1 paper

NM_024675.4

p.T788T

c.2364C>A

1 paper

NM_024675.4

p.K784Fs

c.2351_2352delinsTFs

2 papers

NM_024675.4

p.L789L

c.2365C>T

1 paper

NM_024675.4

p.K784I

c.2351A>T

1 paper

NM_024675.4

p.L789P

c.2366T>C

1 paper

NM_024675.4

p.K784*

c.2350A>T

1 paper

NM_024675.4

p.K784fs

c.2350_2351fs