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.K64N

c.192A>C

Surrounding Variants

1 paper

NM_001007553.3

p.Q61L

c.182A>T

2 papers

NM_001007553.3

p.Q61R

c.182A>G

1 paper

NM_001007553.3

p.Q61E

c.181C>G

1 paper

NM_001007553.3

p.N57S

c.170A>G

1 paper

NM_001007553.3

p.Q55delFs

c.163delG

2 papers

NM_001242891.2

p.F96delFs

c.287delA

NM_001007553.3

p.F50Fs

c.149_150delinsCFs

3 papers

NM_001242891.2

p.F96fs

c.286_287fs

NM_001130523.3

p.F50fs

c.148_149fs

1 paper

NM_001007553.3

p.A47V

c.140C>T

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_001242891.2

p.T81delFs

c.243delG