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.D66fs

c.196_197fs

Surrounding Variants

2 papers

NM_001077415.3

p.D66insFs

c.196dupG

1 paper

NM_001077415.3

p.L60insFs

c.180dupG

1 paper

NM_001077415.3

p.S81_K82delFs

c.241_245del5

2 papers

NM_001077415.3

p.D85_S86delFs

c.254_257del4

1 paper

NM_001077415.3

p.D85fs

c.253_254fs

1 paper

NM_001077415.3

p.S86Splc

c.257+1G>T

1 paper

NM_001077415.3

p.S86Splc

c.257+10T>G

1 paper

NM_001077415.3

p.G51R

c.151G>A

1 paper

NM_001077415.3

p.P34S

c.100C>T

1 paper

NM_001077415.3

p.W28*

c.84G>A

1 paper

NM_001077415.3

p.W28*

c.83G>A

1 paper

NM_001077415.3

p.G16S

c.46G>A