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.L536L

c.1606C>T

Surrounding Variants

1 paper

NM_024675.4

p.L536M

c.1606C>A

1 paper

NM_024675.4

p.S535R

c.1605C>A

1 paper

NM_024675.4

p.C527_L536insFs

c.1579_1607dup29

1 paper

NM_024675.4

p.T533_S535insFs

c.1597_1603dup7

1 paper

NM_024675.4

p.S535N

c.1604G>A

1 paper

NM_024675.4

p.S537fs

c.1609_1610fs

1 paper

NM_024675.4

p.S535fs

c.1603_1604fs

1 paper

NM_024675.4

p.S534del1

c.1600_1601delAGA

1 paper

NM_024675.4

p.H526_S534del0

c.1576_1602del27

6 papers

NM_024675.4

p.S537L

c.1610C>T

1 paper

NM_024675.4

p.S537S

c.1611G>C

2 papers

NM_024675.4

p.S534F

c.1601C>T