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.V677delFs

c.2029delC

Surrounding Variants

1 paper

NM_024675.4

p.V677V

c.2031T>C

1 paper

NM_024675.4

p.V677L

c.2029G>C

1 paper

NM_024675.4

p.I676I

c.2028T>C

1 paper

NM_024675.4

p.L678L

c.2032C>T

1 paper

NM_024675.4

p.L678I

c.2032C>A

2 papers

NM_024675.4

p.L678fs

c.2032_2033fs

6 papers

NM_024675.4

p.I676T

c.2027T>C

3 papers

NM_024675.4

p.L678delFs

c.2032delG

1 paper

NM_024675.4

p.L678L

c.2034A>T

1 paper

NM_024675.4

p.L678L

c.2034A>G

1 paper

NM_024675.4

p.I676L

c.2026A>C

1 paper

NM_024675.4

p.L678fs

c.2032_2033fs