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.R370*

c.1108C>T

Surrounding Variants

2 papers

NM_001242891.2

p.R371C

c.1111C>T

NM_001007553.3

p.R325C

c.973C>T

1 paper

NM_001007553.3

p.T322A

c.964A>G

1 paper

NM_001007553.3

p.V316A

c.947T>C

1 paper

NM_001007553.3

p.T332P

c.994A>C

1 paper

NM_001007553.3

p.E335K

c.1003G>A

1 paper

NM_001007553.3

p.E335delFs

c.1004_1005delTT

1 paper

NM_001007553.3

p.T304A

c.910A>G

1 paper

NM_001242891.2

p.K348delFs

c.1043_1044delTT

2 papers

NM_001242891.2

p.E392*

c.1174G>T

2 papers

NM_001242891.2

p.K348fs

c.1042_1043fs

1 paper

NM_001007553.3

p.A347P

c.1039G>C

1 paper

NM_001007553.3

p.R348*

c.1042C>T