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

2 papers

NM_024675.4

p.H647Y

c.1939C>T

Surrounding Variants

2 papers

NM_024675.4

p.H647L

c.1940A>T

2 papers

NM_024675.4

p.H647R

c.1940A>G

1 paper

NM_024675.4

p.R646G

c.1936A>G

3 papers

NM_024675.4

p.E645E

c.1935G>A

1 paper

NM_024675.4

p.L648L

c.1944T>C

2 papers

NM_024675.4

p.E645*

c.1933G>T

1 paper

NM_024675.4

p.E645K

c.1933G>A

3 papers

NM_024675.4

p.K649*

c.1945A>T

1 paper

NM_024675.4

p.L648_K649Fs

c.1942_1945delinsAACFs

1 paper

NM_024675.4

p.F638_L648del0

c.1912_1944del33

1 paper

NM_024675.4

p.G644G

c.1932A>G

1 paper

NM_024675.4

p.G644G

c.1932A>C