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

6 papers

NM_024675.4

p.Y1055*

c.3165C>G

Surrounding Variants

5 papers

NM_024675.4

p.Y1055*

c.3165C>A

11 papers

NM_024675.4

p.Q1056*

c.3166C>T

1 paper

NM_024675.4

p.Q1056fs

c.3166_3167fs

1 paper

NM_024675.4

p.Y1055_Q1056delFs

c.3165_3168del4

2 papers

NM_024675.4

p.S1054C

c.3161C>G

1 paper

NM_024675.4

p.D1053del1

c.3157_3159delATC

10 papers

NM_024675.4

p.H1050_D1053del4

c.3148_3158del12

1 paper

NM_024675.4

p.D1053D

c.3159T>C

1 paper

NM_024675.4

p.Q1056_A1057delFs

c.3167_3170del4

1 paper

NM_024675.4

p.S1058A

c.3172T>G

2 papers

NM_024675.4

p.S1058P

c.3172T>C

11 papers

NM_024675.4

p.Q1056_A1057del2

c.3166_3170del6