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.S475T

c.1423T>A

Surrounding Variants

1 paper

NM_024675.4

p.S475_R476insA

c.1423_1427ins3

1 paper

NM_024675.4

p.T470_S474del5

c.1408_1421del15

1 paper

NM_024675.4

p.S474insFs

c.1420_1421insAG

1 paper

NM_024675.4

p.S474R

c.1422T>G

1 paper

NM_024675.4

p.S474S

c.1422T>C

1 paper

NM_024675.4

p.S474R

c.1422T>A

1 paper

NM_024675.4

p.S475L

c.1424C>T

6 papers

NM_024675.4

p.S475*

c.1424C>G

1 paper

NM_024675.4

p.S475insFs

c.1424_1425insAG

6 papers

NM_024675.4

p.S475*

c.1424C>A

1 paper

NM_024675.4

p.S474delFs

c.1422delA

3 papers

NM_024675.4

p.S474N

c.1421G>A