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.K185N

c.555A>C

Surrounding Variants

1 paper

NM_024675.4

p.K185N

c.555A>T

2 papers

NM_024675.4

p.N186fs

c.556_557fs

1 paper

NM_024675.4

p.N186Y

c.556A>T

1 paper

NM_024675.4

p.K185I

c.554A>T

2 papers

NM_024675.4

p.K185R

c.554A>G

1 paper

NM_024675.4

p.N186D

c.556A>G

1 paper

NM_024675.4

p.N186H

c.556A>C

1 paper

NM_024675.4

p.K185T

c.554A>C

5 papers

NM_024675.4

p.N186I

c.557A>T

3 papers

NM_024675.4

p.N186S

c.557A>G

1 paper

NM_024675.4

p.K185E

c.553A>G

1 paper

NM_024675.4

p.N186T

c.557A>C