Varaico: Literature-Extracted Genetic Variants

Gene:SPECC1L
Variant:p.E29V

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.E29V
c.86A>T
Surrounding Variants
1 paper
NM_015330.6
p.S31R
c.91A>C
1 paper
NM_015330.6
p.K27I
c.80A>T
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.E24G
c.71A>G
1 paper
NM_015330.6
p.E24K
c.70G>A
1 paper
NM_015330.6
p.E24Q
c.70G>C
1 paper
NM_015330.6
p.Q21_T22ins0
c.63_65dupAAC
1 paper
NM_015330.6
p.Q21*
c.61C>T
1 paper
NM_015330.6
p.T20A
c.58A>G
1 paper
NM_015330.6
p.V41ins0
c.121_123dupGTA
1 paper
NM_015330.6
p.V41L
c.121G>C
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