Varaico: Literature-Extracted Genetic Variants

CRNKL1

83 papers

RefSeq Summary

The crooked neck (crn) gene of Drosophila is essential for embryogenesis and is thought to be involved in cell cycle progression and pre-mRNA splicing. A protein encoded by this human locus has been f...

Pfam Domains

HAT_Syf1_CNRKL1_Caa 224–522UCSCPre-mRNA-splicing factor Syf1/CRNKL1 C-terminal HAT repeat

HAT_Syf1_CNRKL1_Caa 236–533UCSCPre-mRNA-splicing factor Syf1/CRNKL1 C-terminal HAT repeat

Gene Aliases

HGNC Name

crooked neck pre-mRNA splicing factor 1

HGNC Alias Symbols

CRN; CLF; SYF3; Clf1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 88 variants

3 papers

NM_001278628.2

p.Q50*

c.148C>T

1 paper

NM_001278628.2

p.M1T

c.2T>C

1 paper

NM_001278628.2

p.A7A

c.21C>G

1 paper

NM_001278628.2

p.G8A

c.23G>C

1 paper

NM_001278628.2

p.R11W

c.31C>T

1 paper

NM_001278628.2

p.E25delFs

c.74delT

1 paper

NM_001278628.2

p.T29insFs

c.86_87insC

1 paper

NM_001278628.2

p.Q32R

c.95A>G

1 paper

NM_001278628.2

p.L42H

c.125T>A

1 paper

NM_001278628.2

p.P48R

c.143C>G

1 paper

NM_001278628.2

p.P49L

c.146C>T

1 paper

NM_001278628.2

p.P49P

c.147T>G