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

2 papers

NM_024675.4

p.L383delFs

c.1147delG

Surrounding Variants

1 paper

NM_024675.4

p.L383P

c.1148T>C

1 paper

NM_024675.4

p.L383L

c.1149G>A

1 paper

NM_024675.4

p.L383L

c.1147C>T

1 paper

NM_024675.4

p.L383M

c.1147C>A

3 papers

NM_024675.4

p.E384*

c.1150G>T

1 paper

NM_024675.4

p.E384Q

c.1150G>C

3 papers

NM_024675.4

p.E384K

c.1150G>A

2 papers

NM_024675.4

p.S382R

c.1146C>G

2 papers

NM_024675.4

p.S382R

c.1146C>A

7 papers

NM_024675.4

p.S382I

c.1145G>T

4 papers

NM_024675.4

p.S382T

c.1145G>C

2 papers

NM_024675.4

p.S382N

c.1145G>A