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.L704L

c.2112T>A

Surrounding Variants

1 paper

NM_024675.4

p.L704R

c.2111T>G

2 papers

NM_024675.4

p.L704P

c.2111T>C

1 paper

NM_024675.4

p.Y705fs

c.2113_2114fs

1 paper

NM_024675.4

p.Y705*

c.2115T>G

1 paper

NM_024675.4

p.Y705Y

c.2115T>C

1 paper

NM_024675.4

p.Y705*

c.2115T>A

1 paper

NM_024675.4

p.L703insFs

c.2108_2109insCC

10 papers

NM_024675.4

p.L703*

c.2108T>G

8 papers

NM_024675.4

p.L703*

c.2108T>A

1 paper

NM_024675.4

p.L703L

c.2107T>C

4 papers

NM_024675.4

p.T706I

c.2117C>T

1 paper

NM_024675.4

p.T706delFs

c.2117delG