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.T96S

c.286A>T

Surrounding Variants

2 papers

NM_024675.4

p.T96A

c.286A>G

1 paper

NM_024675.4

p.T96P

c.286A>C

1 paper

NM_024675.4

p.K95N

c.285G>T

1 paper

NM_024675.4

p.K95N

c.285G>C

2 papers

NM_024675.4

p.K95K

c.285G>A

2 papers

NM_024675.4

p.E94delFs

c.282delT

1 paper

NM_024675.4

p.E91_K95del0

c.273_284del12

2 papers

NM_024675.4

p.T96I

c.287C>T

1 paper

NM_024675.4

p.T96R

c.287C>G

2 papers

NM_024675.4

p.T96K

c.287C>A

1 paper

NM_024675.4

p.K95M

c.284A>T

1 paper

NM_024675.4

p.T96T

c.288A>G