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

5 papers

NM_001007553.3

p.A22G

c.65C>G

Surrounding Variants

1 paper

NM_001007553.3

p.E26D

c.78A>T

2 papers

NM_001007553.3

p.G12V

c.35G>T

1 paper

NM_001007553.3

p.G12*

c.34G>T

2 papers

NM_001007553.3

p.G12R

c.34G>A

1 paper

NM_001007553.3

p.N11S

c.32A>G

1 paper

NM_001007553.3

p.K32_T35delFs

c.94_104del11

1 paper

NM_001242891.2

p.T81delFs

c.243delG

2 papers

NM_001242891.2

p.S82fs

c.244_245fs

3 papers

NM_001242891.2

p.Y83*

c.249C>G

NM_001130523.3

p.Y37*

c.111C>G

1 paper

NM_001242891.2

p.Y83insFs

c.248_249insA

3 papers

NM_001242891.2

p.Y83*

c.249C>A

NM_001130523.3

p.Y37*

c.111C>A

1 paper

NM_001007553.3

p.N6ins1

c.17_18insAGG