Varaico: Literature-Extracted Genetic Variants

Gene:SPECC1L
Variant:p.E221K

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.E221K
c.661G>A
Surrounding Variants
1 paper
NM_015330.6
p.Q212K
c.634C>A
3 papers
NM_015330.6
p.T230I
c.689C>T
1 paper
NM_015330.6
p.I231L
c.691A>C
1 paper
NM_015330.6
p.I231F
c.691A>T
1 paper
NM_015330.6
p.A211T
c.631G>A
1 paper
NM_015330.6
p.M232V
c.694A>G
1 paper
NM_015330.6
p.D208E
c.624C>A
1 paper
NM_015330.6
p.D208E
c.624C>G
2 papers
NM_015330.6
p.Q235*
c.703C>T
1 paper
NM_015330.6
p.D238_S241ins1
c.712_723dup12
1 paper
NM_015330.6
p.D238_V239insFs
c.714_715insCA
1 paper
NM_015330.6
p.L202F
c.606G>C
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