Varaico: Literature-Extracted Genetic Variants

CSDE1

1p13.2 (UCSC)OMIM PanelApp GTEx

127 papers

Pfam Domains

CSDaa 26–90UCSC'Cold-shock' DNA-binding domain

CSDE1aa 98–179UCSCCold shock domain-containing protein E1 CSD domain

CSDaa 186–248UCSC'Cold-shock' DNA-binding domain

CSDE1aa 261–337UCSCCold shock domain-containing protein E1 CSD domain

CSDaa 349–413UCSC'Cold-shock' DNA-binding domain

CSDE1aa 426–510UCSCCold shock domain-containing protein E1 CSD domain

Gene Aliases

HGNC Name

cold shock domain containing E1

HGNC Alias Symbols

D1S155E; UNR

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001007553.3

p.Q250R

c.749A>G

Surrounding Variants

1 paper

NM_001007553.3

p.L248_P249insA

c.742_746ins3

1 paper

NM_001242891.2

p.V291G

c.872T>G

2 papers

NM_001242891.2

p.A288A

c.864A>T

1 paper

NM_001007553.3

p.P272P

c.816A>C

1 paper

NM_001007553.3

p.S276G

c.826A>G

1 paper

NM_001007553.3

p.Y213C

c.638A>G

1 paper

NM_001242891.2

p.R248_G249insA

c.742_746ins3

1 paper

NM_001007553.3

p.E201D

c.603A>T

1 paper

NM_001007553.3

p.F199Y

c.596T>A

1 paper

NM_001007553.3

p.K194_E195Splc

c.583-8T>G

2 papers

NM_001007553.3

p.R174C

c.520C>T

1 paper

NM_007158.6

p.A139V

c.416C>T