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.S172C

c.515C>G

Surrounding Variants

3 papers

NM_024675.4

p.S172F

c.515C>T

1 paper

NM_024675.4

p.S172Y

c.515C>A

1 paper

NM_024675.4

p.S172delFs

c.514delA

3 papers

NM_024675.4

p.S172fs

c.514_515fs

1 paper

NM_024675.4

p.S172A

c.514T>G

1 paper

NM_024675.4

p.S172P

c.514T>C

1 paper

NM_024675.4

p.S172T

c.514T>A

2 papers

NM_024675.4

p.S172fs

c.514_515fs

2 papers

NM_024675.4

p.G173W

c.517G>T

1 paper

NM_024675.4

p.L171F

c.513G>T

2 papers

NM_024675.4

p.G173R

c.517G>C

1 paper

NM_024675.4

p.L171F

c.513G>C