Varaico: Literature-Extracted Genetic Variants

Gene:SPECC1L
Variant:p.I100N

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
4 papers
NM_015330.6
p.I100N
c.299T>A
Surrounding Variants
1 paper
NM_015330.6
p.I100F
c.298A>T
1 paper
NM_015330.6
p.T102K
c.305C>A
3 papers
NM_015330.6
p.S98F
c.293C>T
1 paper
NM_015330.6
p.G103S
c.307G>A
1 paper
NM_015330.6
p.T93T
c.279C>T
1 paper
NM_015330.6
p.M91I
c.273G>A
1 paper
NM_015330.6
p.M91I
c.273G>C
1 paper
NM_015330.6
p.M91I
c.273G>T
1 paper
NM_015330.6
p.A90T
c.268G>A
1 paper
NM_015330.6
p.A88V
c.263C>T
1 paper
NM_015330.6
p.S87C
c.260C>G
4 papers
NM_015330.6
p.A86T
c.256G>A
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