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

17 papers

NM_024675.4

p.R945Splc

c.2835-1G>C

Surrounding Variants

1 paper

NM_024675.4

p.R945M

c.2834G>T

4 papers

NM_024675.4

p.R945Splc

c.2835-1G>A

1 paper

NM_024675.4

p.R945S

c.2835G>T

1 paper

NM_024675.4

p.R945S

c.2835G>C

1 paper

NM_024675.4

p.R945W

c.2833A>T

1 paper

NM_024675.4

p.R945G

c.2833A>G

1 paper

NM_024675.4

p.R945Splc

c.2835-2A>C

2 papers

NM_024675.4

p.R945Splc

c.2835-3T>C

1 paper

NM_024675.4

p.A946S

c.2836G>T

1 paper

NM_024675.4

p.A946P

c.2836G>C

4 papers

NM_024675.4

p.A946T

c.2836G>A

2 papers

NM_024675.4

p.A946fs

c.2836_2837fs