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

5 papers

NM_001077415.3

p.C192Y

c.575G>A

Surrounding Variants

1 paper

NM_001077415.3

p.L197P

c.590T>C

1 paper

NM_001077415.3

p.Q184*

c.550C>T

3 papers

NM_001077415.3

p.R204C

c.610C>T

1 paper

NM_001077415.3

p.N205I

c.614A>T

2 papers

NM_001077415.3

p.A206T

c.616G>A

1 paper

NM_001077415.3

p.G176R

c.526G>A

1 paper

NM_001077415.3

p.V210I

c.628G>A

1 paper

NM_001077415.3

p.S212L

c.635C>T

1 paper

NM_001077415.3

p.G171insFs

c.512_513insGC

6 papers

NM_001077415.3

p.P162A

c.484C>G

1 paper

NM_001077415.3

p.F215L

c.643T>C

1 paper

NM_001077415.3

p.F215L

c.645T>A