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.F215L

c.643T>C

Surrounding Variants

1 paper

NM_001077415.3

p.F215L

c.645T>A

1 paper

NM_001077415.3

p.F215L

c.645T>G

1 paper

NM_001077415.3

p.C218Y

c.653G>A

1 paper

NM_001077415.3

p.R220*

c.658C>T

1 paper

NM_001077415.3

p.R220Q

c.659G>A

1 paper

NM_001077415.3

p.E225D

c.675G>C

1 paper

NM_001077415.3

p.E225D

c.675G>T

1 paper

NM_001077415.3

p.K233insFs

c.697_698insG

1 paper

NM_001077415.3

p.H239R

c.716A>G

1 paper

NM_001077415.3

p.L241_D245delFs

c.723_733del11

1 paper

NM_001077415.3

p.K242N

c.726G>C

1 paper

NM_001077415.3

p.K242N

c.726G>T