Varaico: Literature-Extracted Genetic Variants

Gene:SPECC1L
Variant:p.A192V

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.A192V
c.575C>T
Surrounding Variants
2 papers
NM_015330.6
p.T194P
c.580A>C
1 paper
NM_015330.6
p.T190T
c.570G>A
2 papers
NM_015330.6
p.T190M
c.569C>T
1 paper
NM_015330.6
p.T190A
c.568A>G
1 paper
NM_015330.6
p.L189R
c.566T>G
1 paper
NM_015330.6
p.L189F
c.565C>T
1 paper
NM_015330.6
p.D196N
c.586G>A
3 papers
NM_015330.6
p.L188F
c.562C>T
2 papers
NM_015330.6
p.V197A
c.590T>C
2 papers
NM_015330.6
p.L200F
c.600A>C
2 papers
NM_015330.6
p.L200F
c.600A>T
1 paper
NM_015330.6
p.H201Q
c.603T>A
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