Varaico: Literature-Extracted Genetic Variants

Gene:SPECC1L
Variant:p.R157Q

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.R157Q
c.470G>A
Surrounding Variants
1 paper
NM_015330.6
p.R157G
c.469C>G
2 papers
NM_015330.6
p.R155C
c.463C>T
1 paper
NM_015330.6
p.T160I
c.479C>T
1 paper
NM_015330.6
p.R153G
c.457C>G
1 paper
NM_015330.6
p.L150V
c.448T>G
1 paper
NM_015330.6
p.R165C
c.493C>T
1 paper
NM_015330.6
p.M166V
c.496A>G
1 paper
NM_015330.6
p.M166K
c.497T>A
1 paper
NM_015330.6
p.G144_A145del1
c.432_434delAGC
1 paper
NM_015330.6
p.Q143Q
c.429G>A
1 paper
NM_015330.6
p.D172H
c.514G>C
1 paper
NM_015330.6
p.G142R
c.424G>C
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