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.Q797_P798insT

c.2389_2393ins3

Surrounding Variants

3 papers

NM_024675.4

p.Q797*

c.2389C>T

1 paper

NM_024675.4

p.Q797K

c.2389C>A

3 papers

NM_024675.4

p.Q797fs

c.2389_2390fs

1 paper

NM_024675.4

p.G796G

c.2388A>G

1 paper

NM_024675.4

p.G796G

c.2388A>C

1 paper

NM_024675.4

p.V791_G796del0

c.2372_2386del15

1 paper

NM_024675.4

p.Q797Q

c.2391A>G

34 papers

NM_024675.4

p.G796*

c.2386G>T

4 papers

NM_024675.4

p.P798S

c.2392C>T

4 papers

NM_024675.4

p.Q797delFs

c.2391delT

1 paper

NM_024675.4

p.P798L

c.2393C>T

1 paper

NM_024675.4

p.P798_T799insFs

c.2394_2395insCT