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.F638_L648del0

c.1912_1944del33

Surrounding Variants

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.L648L

c.1944T>C

1 paper

NM_024675.4

p.E650*

c.1948G>T

10 papers

NM_024675.4

p.K649_E650insFs

c.1947_1948insA

4 papers

NM_024675.4

p.E650fs

c.1948_1949fs

1 paper

NM_024675.4

p.L648_E650delins

c.1942_1948delinsA

5 papers

NM_024675.4

p.E650fs

c.1948_1949fs

2 papers

NM_024675.4

p.H647L

c.1940A>T

2 papers

NM_024675.4

p.H647R

c.1940A>G

2 papers

NM_024675.4

p.H647Y

c.1939C>T

1 paper

NM_024675.4

p.G651V

c.1952G>T