Varaico: Literature-Extracted Genetic Variants

Gene:SPECC1L
Variant:p.T299A

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.T299A
c.895A>G
Surrounding Variants
1 paper
NM_015330.6
p.I298L
c.892A>C
1 paper
NM_015330.6
p.G301V
c.902G>T
1 paper
NM_015330.6
p.D305N
c.913G>A
1 paper
NM_015330.6
p.S312C
c.935C>G
1 paper
NM_015330.6
p.D283N
c.847G>A
1 paper
NM_015330.6
p.R281G
c.841A>G
1 paper
NM_015330.6
p.P319R
c.956C>G
1 paper
NM_015330.6
p.P319L
c.956C>T
1 paper
NM_015330.6
p.G320R
c.958G>C
1 paper
NM_015330.6
p.S321P
c.961T>C
1 paper
NM_015330.6
p.L274L
c.822G>A
1 paper
NM_015330.6
p.R270R
c.810G>A
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