Varaico: Literature-Extracted Genetic Variants

Gene:SPECC1L
Variant:p.K109K

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.K109K
c.327G>A
Surrounding Variants
1 paper
NM_015330.6
p.K109T
c.326A>C
1 paper
NM_015330.6
p.R110Q
c.329G>A
1 paper
NM_015330.6
p.S111C
c.331A>T
1 paper
NM_015330.6
p.S111R
c.333C>A
1 paper
NM_015330.6
p.A105G
c.314C>G
1 paper
NM_015330.6
p.T114R
c.341C>G
1 paper
NM_015330.6
p.T114I
c.341C>T
1 paper
NM_015330.6
p.E124*
c.370G>T
1 paper
NM_015330.6
p.R127C
c.379C>T
1 paper
NM_015330.6
p.E128Q
c.382G>C
1 paper
NM_015330.6
p.T130I
c.389C>T
1 paper
NM_015330.6
p.K137I
c.410A>T
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