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.D801H

c.2401G>C

Surrounding Variants

2 papers

NM_024675.4

p.D801N

c.2401G>A

1 paper

NM_024675.4

p.D801delFs

c.2401_2402delTC

1 paper

NM_024675.4

p.C800R

c.2398T>C

3 papers

NM_024675.4

p.P798_T799del2

c.2392_2396del6

1 paper

NM_024675.4

p.C802Y

c.2405G>A

1 paper

NM_024675.4

p.T799T

c.2397C>T

1 paper

NM_024675.4

p.T799T

c.2397C>G

2 papers

NM_024675.4

p.T799fs

c.2395_2396fs

2 papers

NM_024675.4

p.C802fs

c.2404_2405fs

2 papers

NM_024675.4

p.C802*

c.2406T>A

1 paper

NM_024675.4

p.C802delFs

c.2405delC

1 paper

NM_024675.4

p.T799fs

c.2395_2396fs