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.I702T

c.2105T>C

Surrounding Variants

1 paper

NM_024675.4

p.I702K

c.2105T>A

3 papers

NM_024675.4

p.I702M

c.2106A>G

1 paper

NM_024675.4

p.L703L

c.2107T>C

1 paper

NM_024675.4

p.S701S

c.2103C>T

1 paper

NM_024675.4

p.S701fs

c.2101_2102fs

1 paper

NM_024675.4

p.S700del1

c.2098_2099delTGA

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.S701delFs

c.2101delA

1 paper

NM_024675.4

p.S700S

c.2100A>G

1 paper

NM_024675.4

p.S700fs

c.2098_2099fs