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

2 papers

NM_024675.4

p.S779S

c.2337A>C

Surrounding Variants

1 paper

NM_024675.4

p.S779L

c.2336C>T

17 papers

NM_024675.4

p.S779*

c.2336C>G

16 papers

NM_024675.4

p.S779*

c.2336C>A

1 paper

NM_024675.4

p.S779A

c.2335T>G

1 paper

NM_024675.4

p.G780G

c.2340C>G

2 papers

NM_024675.4

p.S778T

c.2333G>C

1 paper

NM_024675.4

p.S781R

c.2341A>C

1 paper

NM_024675.4

p.S781I

c.2342G>T

2 papers

NM_024675.4

p.S781N

c.2342G>A

1 paper

NM_024675.4

p.S778_S779insA

c.2332_2336ins3

1 paper

NM_024675.4

p.S781R

c.2343C>G

1 paper

NM_024675.4

p.D777insFs

c.2330dupA