Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.S9C

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.S9C
c.26C>G
Surrounding Variants
2 papers
NM_000266.4
p.A8_S9insFs
c.22_25dup4
2 papers
NM_000266.4
p.A8P
c.22G>C
1 paper
NM_000266.4
p.A7delins
c.21delinsAAGG
1 paper
NM_000266.4
p.L6P
c.17T>C
2 papers
NM_000266.4
p.S11_M12del2
c.31_35del6
1 paper
NM_000266.4
p.L13insFs
c.37dupC
7 papers
NM_000266.4
p.L13R
c.38T>G
1 paper
NM_000266.4
p.V5I
c.13G>A
3 papers
NM_000266.4
p.H4delFs
c.11_12delAT
1 paper
NM_000266.4
p.L13L
c.39C>T
1 paper
NM_000266.4
p.S9_S14delFs
c.25_40del16
1 paper
NM_000266.4
p.H4fs
c.10_11fs
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