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.S312C

c.934A>T

Surrounding Variants

1 paper

NM_024675.4

p.S312G

c.934A>G

1 paper

NM_024675.4

p.S312T

c.935G>C

1 paper

NM_024675.4

p.S312N

c.935G>A

1 paper

NM_024675.4

p.S312delFs

c.934delT

1 paper

NM_024675.4

p.K311N

c.933A>T

1 paper

NM_024675.4

p.K311N

c.933A>C

1 paper

NM_024675.4

p.S312S

c.936T>C

4 papers

NM_024675.4

p.K311R

c.932A>G

1 paper

NM_024675.4

p.K311T

c.932A>C

5 papers

NM_024675.4

p.K311insFs

c.932_933insC

2 papers

NM_024675.4

p.G313S

c.937G>A

1 paper

NM_024675.4

p.K311*

c.931A>T