Varaico: Literature-Extracted Genetic Variants

Gene:SPECC1L
Variant:p.G386R

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.G386R
c.1156G>A
Surrounding Variants
1 paper
NM_015330.6
p.G386R
c.1156G>C
1 paper
NM_015330.6
p.N387ins1
c.1160_1161insTTT
1 paper
NM_015330.6
p.E390K
c.1168G>A
1 paper
NM_015330.6
p.E390V
c.1169A>T
1 paper
NM_015330.6
p.R381W
c.1141C>T
1 paper
NM_015330.6
p.V393A
c.1178T>C
1 paper
NM_015330.6
p.A394P
c.1180G>C
1 paper
NM_015330.6
p.E378*
c.1132G>T
10 papers
NM_015330.6
p.T397P
c.1189A>C
1 paper
NM_015330.6
p.I374L
c.1120A>C
4 papers
NM_015330.6
p.R399G
c.1195C>G
1 paper
NM_015330.6
p.G373S
c.1117G>A
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