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.E545D

c.1635A>T

Surrounding Variants

1 paper

NM_024675.4

p.E545D

c.1635A>C

1 paper

NM_024675.4

p.V546_T547ins5

c.1636_1640ins15

1 paper

NM_024675.4

p.E545delFs

c.1635delT

2 papers

NM_024675.4

p.E545G

c.1634A>G

1 paper

NM_024675.4

p.E545A

c.1634A>C

3 papers

NM_024675.4

p.V546A

c.1637T>C

18 papers

NM_024675.4

p.E545*

c.1633G>T

1 paper

NM_024675.4

p.E545Q

c.1633G>C

10 papers

NM_024675.4

p.E545K

c.1633G>A

1 paper

NM_024675.4

p.V546V

c.1638C>T

1 paper

NM_024675.4

p.V546_T547insFs

c.1638_1639insC

1 paper

NM_024675.4

p.E544delFs

c.1630delC