Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.L13L

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.L13L
c.39C>T
Surrounding Variants
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.S9_S14delFs
c.25_40del16
2 papers
NM_000266.4
p.S11_M12del2
c.31_35del6
1 paper
NM_000266.4
p.S14S
c.42C>T
3 papers
NM_000266.4
p.L16P
c.47T>C
1 paper
NM_000266.4
p.V17fs
c.49_50fs
1 paper
NM_000266.4
p.V17delFs
c.49delC
2 papers
NM_000266.4
p.V17insFs
c.50dupT
1 paper
NM_000266.4
p.S14_V17delFs
c.40_49del10
1 paper
NM_000266.4
p.S9C
c.26C>G
2 papers
NM_000266.4
p.A8_S9insFs
c.22_25dup4
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