Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.I48_S49delFs

NDP

247 papers

RefSeq Summary

This gene encodes a secreted protein with a cystein-knot motif that activates the Wnt/beta-catenin pathway. The protein forms disulfide-linked oligomers in the extracellular matrix. Mutations in this ...

Pfam Domains

Cys_knotaa 37–133UCSCCystine-knot domain

Gene Aliases

HGNC Name

norrin cystine knot growth factor NDP

HGNC Previous Symbol

EVR2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000266.4
p.I48_S49delFs
c.142_145del4
Surrounding Variants
1 paper
NM_000266.4
p.S49T
c.146G>C
1 paper
NM_000266.4
p.S49R
c.147T>G
2 papers
NM_000266.4
p.S49R
c.147T>A
1 paper
NM_000266.4
p.S49R
c.145A>C
3 papers
NM_000266.4
p.H50D
c.148C>G
1 paper
NM_000266.4
p.M40_S49del10
c.118_146del30
1 paper
NM_000266.4
p.I48S
c.143T>G
1 paper
NM_000266.4
p.I48T
c.143T>C
1 paper
NM_000266.4
p.I48N
c.143T>A
1 paper
NM_000266.4
p.P51S
c.151C>T
2 papers
NM_000266.4
p.D46G
c.137A>G
1 paper
NM_000266.4
p.D46delFs
c.136delC
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