Varaico: Literature-Extracted Genetic Variants

Gene:SPECC1L
Variant:p.A46S

SPECC1L

113 papers

RefSeq Summary

This gene encodes a coiled-coil domain containing protein. The encoded protein may play a critical role in actin-cytoskeletal reorganization during facial morphogenesis. Mutations in this gene are a c...

Pfam Domains

CHaa 1011–1117UCSCCalponin homology (CH) domain

Gene Aliases

HGNC Name

sperm antigen with calponin homology and coiled-coil domains 1 like

HGNC Previous Symbol

CYTSA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015330.6
p.A46S
c.136G>T
Surrounding Variants
1 paper
NM_015330.6
p.A47insFs
c.139_140ins4
1 paper
NM_015330.6
p.T45R
c.134C>G
1 paper
NM_015330.6
p.A47S
c.139G>T
1 paper
NM_015330.6
p.G44E
c.131G>A
2 papers
NM_015330.6
p.S50L
c.149C>T
1 paper
NM_015330.6
p.V41L
c.121G>C
1 paper
NM_015330.6
p.V41ins0
c.121_123dupGTA
1 paper
NM_015330.6
p.K51_T52Splc
c.153+5T>G
1 paper
NM_015330.6
p.S31R
c.93C>A
1 paper
NM_015330.6
p.S31R
c.93C>G
1 paper
NM_015330.6
p.S31R
c.91A>C
4 papers
NM_015330.6
p.E29V
c.86A>T
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