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

3 papers

NM_001077415.3

p.P315P

c.945G>A

Surrounding Variants

1 paper

NM_001077415.3

p.V313M

c.937G>A

1 paper

NM_001077415.3

p.K319delFs

c.956delA

1 paper

NM_001077415.3

p.K319delFs

c.957delG

1 paper

NM_001077415.3

p.Q320fs

c.958_959fs

8 papers

NM_001077415.3

p.T311I

c.932C>T

7 papers

NM_001077415.3

p.Q320delFs

c.959delA

5 papers

NM_001077415.3

p.Q320fs

c.958_959fs

1 paper

NM_001077415.3

p.Q320R

c.959A>G

1 paper

NM_001077415.3

p.E310D

c.930G>C

1 paper

NM_001077415.3

p.E310D

c.930G>T

4 papers

NM_001077415.3

p.E325K

c.973G>A

1 paper

NM_001077415.3

p.E325D

c.975G>C