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.S979S

c.2937T>C

Surrounding Variants

3 papers

NM_024675.4

p.S979delFs

c.2936delC

1 paper

NM_024675.4

p.S979I

c.2936G>T

1 paper

NM_024675.4

p.S979T

c.2936G>C

2 papers

NM_024675.4

p.S980fs

c.2938_2939fs

1 paper

NM_024675.4

p.S980N

c.2939G>A

3 papers

NM_024675.4

p.S980delFs

c.2938delT

1 paper

NM_024675.4

p.V978fs

c.2932_2933fs

1 paper

NM_024675.4

p.S980S

c.2940C>T

1 paper

NM_024675.4

p.V978D

c.2933T>A

2 papers

NM_024675.4

p.S981G

c.2941A>G

1 paper

NM_024675.4

p.S981R

c.2941A>C

5 papers

NM_024675.4

p.L977insFs

c.2931dupA