Varaico: Literature-Extracted Genetic Variants

Gene:SPECC1L
Variant:p.G142R

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.G142R
c.424G>C
Surrounding Variants
1 paper
NM_015330.6
p.Q143Q
c.429G>A
1 paper
NM_015330.6
p.G144_A145del1
c.432_434delAGC
1 paper
NM_015330.6
p.P139L
c.416C>T
1 paper
NM_015330.6
p.P139_S140ins4
c.415_419ins12
1 paper
NM_015330.6
p.K137I
c.410A>T
1 paper
NM_015330.6
p.L150V
c.448T>G
1 paper
NM_015330.6
p.R153G
c.457C>G
1 paper
NM_015330.6
p.T130I
c.389C>T
2 papers
NM_015330.6
p.R155C
c.463C>T
1 paper
NM_015330.6
p.E128Q
c.382G>C
1 paper
NM_015330.6
p.R157G
c.469C>G
1 paper
NM_015330.6
p.R127C
c.379C>T
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