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_001031717.4

p.L368L

c.1104G>A

Surrounding Variants

1 paper

NM_001077415.3

p.E350Splc

c.1049-401C>A

1 paper

NM_001031717.4

p.H373H

c.1119C>T

2 papers

NM_001031717.4

p.M379T

c.1136T>C

1 paper

NM_001031717.4

p.G350Splc

c.1049-28G>A

1 paper

NM_001077415.3

p.E350Splc

c.1048+321G>A

2 papers

NM_001031717.4

p.G350Splc

c.1049-129T>C

1 paper

NM_001077415.3

p.E350Splc

c.1049-129T>C

1 paper

NM_001077415.3

p.E350Splc

c.1048+74T>A

1 paper

NM_001077415.3

p.E350Splc

c.1049-2A>G

1 paper

NM_001077415.3

p.E350Splc

c.1048+23G>T

1 paper

NM_001077415.3

p.C343S

c.1028G>C

1 paper

NM_001077415.3

p.Q368Q

c.1104G>A