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

1–12 of 126 variants

20 papers

NM_001077415.3

p.R329C

c.985C>T

14 papers

NM_001077415.3

p.R107H

c.320G>A

10 papers

NM_001077415.3

p.M13V

c.37A>G

8 papers

NM_001077415.3

p.T311I

c.932C>T

7 papers

NM_001077415.3

p.Q320delFs

c.959delA

6 papers

NM_001077415.3

p.P162A

c.484C>G

5 papers

NM_001077415.3

p.C192Y

c.575G>A

5 papers

NM_001077415.3

p.Q320fs

c.958_959fs

5 papers

NM_001077415.3

p.E414K

c.1240G>A

4 papers

NM_001077415.3

p.E325K

c.973G>A

3 papers

NM_001077415.3

p.P128R

c.383C>G

3 papers

NM_001077415.3

p.R204C

c.610C>T