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

2 papers

NM_001242891.2

p.M1K

c.2T>A

Surrounding Variants

1 paper

NM_001007553.3

p.M1I

c.3G>T

1 paper

NM_001007553.3

p.M1I

c.3G>C

1 paper

NM_001007553.3

p.M1I

c.3G>A

1 paper

NM_001007553.3

p.F3S

c.8T>C

1 paper

NM_001007553.3

p.D4Y

c.10G>T

1 paper

NM_001007553.3

p.P5_N6ins2

c.15_16ins6

1 paper

NM_001007553.3

p.N6ins1

c.17_18insAGG

1 paper

NM_001007553.3

p.N11S

c.32A>G

1 paper

NM_001007553.3

p.G12*

c.34G>T

2 papers

NM_001007553.3

p.G12R

c.34G>A

2 papers

NM_001007553.3

p.G12V

c.35G>T

5 papers

NM_001007553.3

p.A22G

c.65C>G