Varaico: Literature-Extracted Genetic Variants

Gene:SHISA3
Variant:p.P194L

SHISA3

20 papers

RefSeq Summary

This gene encodes a single-transmembrane protein which is one of nine members of a family of transmembrane adaptors that modulate both WNT and FGF signaling by blocking the maturation and transport of...

Pfam Domains

Shisa_Naa 25–80UCSCShisa, N-terminal domain

Gene Aliases

HGNC Name

shisa family member 3

HGNC Alias Symbol

hShisa3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001080505.3
p.P194L
c.581C>T
Surrounding Variants
1 paper
NM_001080505.3
p.P193P
c.579C>T
1 paper
NM_001080505.3
p.P195P
c.585A>G
1 paper
NM_001080505.3
p.P192L
c.575C>T
1 paper
NM_001080505.3
p.P190P
c.570C>T
1 paper
NM_001080505.3
p.P190fs
c.568_569fs
1 paper
NM_001080505.3
p.P185L
c.554C>T
1 paper
NM_001080505.3
p.S236I
c.707G>T
1 paper
NM_001080505.3
p.M148K
c.443T>A
1 paper
NM_001080505.3
p.R135H
c.404G>A
1 paper
NM_001080505.3
p.P126L
c.377C>T
1 paper
NM_001080505.3
p.T122S
c.365C>G
1 paper
NM_001080505.3
p.T122S
c.364A>T
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