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

3 papers

NM_024675.4

p.H1184Y

c.3550C>T

Surrounding Variants

2 papers

NM_024675.4

p.Y1183Y

c.3549C>T

92 papers

NM_024675.4

p.Y1183*

c.3549C>G

85 papers

NM_024675.4

p.Y1183*

c.3549C>A

1 paper

NM_024675.4

p.V1182delFs

c.3545_3546delTA

1 paper

NM_024675.4

p.H1184L

c.3551A>T

1 paper

NM_024675.4

p.H1184H

c.3552C>T

5 papers

NM_024675.4

p.H1184Q

c.3552C>G

1 paper

NM_024675.4

p.H1184fs

c.3550_3551fs

5 papers

NM_024675.4

p.H1184Q

c.3552C>A

1 paper

NM_024675.4

p.H1184delFs

c.3551delT

1 paper

NM_024675.4

p.Y1183_H1184delins

c.3549_3552delinsTTTG

2 papers

NM_024675.4

p.Y1183C

c.3548A>G