Varaico: Literature-Extracted Genetic Variants

CRELD1

120 papers

RefSeq Summary

This gene encodes a member of a subfamily of epidermal growth factor-related proteins. The encoded protein is characterized by a cysteine-rich with epidermal growth factor-like domain. This protein ma...

Pfam Domains

DUF3456aa 45–103UCSCTLR4 regulator and MIR-interacting MSAP

DUF3456aa 99–142UCSCTLR4 regulator and MIR-interacting MSAP

EGF_CAaa 245–303UCSCCalcium-binding EGF domain

EGF_CAaa 305–345UCSCCalcium-binding EGF domain

Gene Aliases

HGNC Name

CRELD disulfide isomerase 1

HGNC Previous Symbol

AVSD2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001077415.3

p.K123Splc

c.369-3C>T

Surrounding Variants

3 papers

NM_001077415.3

p.P128R

c.383C>G

1 paper

NM_001077415.3

p.S136insFs

c.408dupA

1 paper

NM_001077415.3

p.C142R

c.424T>C

1 paper

NM_001077415.3

p.A145T

c.433G>A

1 paper

NM_001077415.3

p.F148F

c.444C>T

1 paper

NM_001077415.3

p.K123Splc

c.368+8G>A

1 paper

NM_001077415.3

p.L115V

c.343C>G

14 papers

NM_001077415.3

p.R107H

c.320G>A

1 paper

NM_001077415.3

p.D102E

c.306C>A

1 paper

NM_001077415.3

p.D102E

c.306C>G

1 paper

NM_001077415.3

p.C98*

c.294C>A

1 paper

NM_001077415.3

p.E87E

c.261G>A