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

1–12 of 186 variants

5 papers

NM_001007553.3

p.A22G

c.65C>G

5 papers

NM_001007553.3

p.R77*

c.229C>T

2 papers

NM_001242891.2

p.M1K

c.2T>A

2 papers

NM_001007553.3

p.G12R

c.34G>A

2 papers

NM_001007553.3

p.G12V

c.35G>T

2 papers

NM_001007553.3

p.Q61R

c.182A>G

2 papers

NM_001242891.2

p.R123*

c.367C>T

2 papers

NM_001007553.3

p.R174C

c.520C>T

2 papers

NM_001242891.2

p.A288A

c.864A>T

2 papers

NM_001242891.2

p.K348fs

c.1042_1043fs

2 papers

NM_001242891.2

p.R370*

c.1108C>T

2 papers

NM_001242891.2

p.E392*

c.1174G>T