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.G313S

c.937G>A

Surrounding Variants

1 paper

NM_024675.4

p.S312S

c.936T>C

1 paper

NM_024675.4

p.G313V

c.938G>T

1 paper

NM_024675.4

p.G313D

c.938G>A

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

2 papers

NM_024675.4

p.G313G

c.939C>T

7 papers

NM_024675.4

p.Q314*

c.940C>T

2 papers

NM_024675.4

p.S312C

c.934A>T

1 paper

NM_024675.4

p.S312G

c.934A>G

1 paper

NM_024675.4

p.Q314fs

c.940_941fs

1 paper

NM_024675.4

p.K311N

c.933A>T