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.P96delFs

c.287delG

Surrounding Variants

1 paper

NM_001007553.3

p.P96fs

c.286_287fs

1 paper

NM_001007553.3

p.K91R

c.272A>G

1 paper

NM_001007553.3

p.K89fs

c.265_266fs

1 paper

NM_001007553.3

p.I83I

c.249T>C

1 paper

NM_001007553.3

p.I83insFs

c.248_249insA

1 paper

NM_001007553.3

p.K81R

c.242A>G

8 papers

NM_001242891.2

p.R123*

c.367C>T

NM_001130523.3

p.R77*

c.229C>T

2 papers

NM_001130523.3

p.S121*

c.362C>A

1 paper

NM_001007553.3

p.E70K

c.208G>A

1 paper

NM_001007553.3

p.D67E

c.201T>A

1 paper

NM_001007553.3

p.Q103_V104Splc

c.310-9G>T

1 paper

NM_001007553.3

p.H110_N111ins9

c.330_331ins27