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.S660S

c.1980T>C

Surrounding Variants

1 paper

NM_024675.4

p.S660delFs

c.1978delT

1 paper

NM_024675.4

p.P661L

c.1982C>T

2 papers

NM_024675.4

p.P661R

c.1982C>G

1 paper

NM_024675.4

p.P661insFs

c.1982_1983insA

3 papers

NM_024675.4

p.L659delFs

c.1976_1977delCA

2 papers

NM_024675.4

p.E658_L659del2

c.1972_1976del6

1 paper

NM_024675.4

p.P661P

c.1983T>C

2 papers

NM_024675.4

p.L659fs

c.1975_1976fs

1 paper

NM_024675.4

p.L659delFs

c.1975_1976delAG

1 paper

NM_024675.4

p.E658_L659del1

c.1973_1975delGTT

5 papers

NM_024675.4

p.K662*

c.1984A>T

5 papers

NM_024675.4

p.E657_P661del5

c.1969_1982del15