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.M339insFs

c.1015_1016insAT

Surrounding Variants

1 paper

NM_001077415.3

p.E340K

c.1018G>A

1 paper

NM_001077415.3

p.C343S

c.1027T>A

1 paper

NM_001077415.3

p.C343S

c.1028G>C

1 paper

NM_001077415.3

p.E334K

c.1000G>A

1 paper

NM_001077415.3

p.R329H

c.986G>A

20 papers

NM_001077415.3

p.R329C

c.985C>T

1 paper

NM_001077415.3

p.E325D

c.975G>C

1 paper

NM_001077415.3

p.E325D

c.975G>T

4 papers

NM_001077415.3

p.E325K

c.973G>A

1 paper

NM_001077415.3

p.Q320R

c.959A>G

1 paper

NM_001077415.3

p.E350Splc

c.1048+23G>T

1 paper

NM_001077415.3

p.Q320fs

c.958_959fs