Varaico: Literature-Extracted Genetic Variants

Gene:SPECC1L
Variant:p.E255K

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.E255K
c.763G>A
Surrounding Variants
1 paper
NM_015330.6
p.R254fs
c.760_761fs
1 paper
NM_015330.6
p.A252T
c.754G>A
1 paper
NM_015330.6
p.E248V
c.743A>T
1 paper
NM_015330.6
p.Q247E
c.739C>G
1 paper
NM_015330.6
p.Q245L
c.734A>T
1 paper
NM_015330.6
p.D269H
c.805G>C
1 paper
NM_015330.6
p.R270R
c.810G>A
1 paper
NM_015330.6
p.R270S
c.810G>C
1 paper
NM_015330.6
p.D238_V239insFs
c.714_715insCA
1 paper
NM_015330.6
p.D238_S241ins1
c.712_723dup12
1 paper
NM_015330.6
p.L274L
c.822G>A
2 papers
NM_015330.6
p.Q235*
c.703C>T
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