Varaico: Literature-Extracted Genetic Variants

Gene:SPECC1L
Variant:p.E420D

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
4 papers
NM_015330.6
p.E420D
c.1260G>T
Surrounding Variants
4 papers
NM_015330.6
p.E420D
c.1260G>C
5 papers
NM_015330.6
p.E420K
c.1258G>A
1 paper
NM_015330.6
p.A422S
c.1264G>T
1 paper
NM_015330.6
p.Q419*
c.1255C>T
5 papers
NM_015330.6
p.T417P
c.1249A>C
1 paper
NM_015330.6
p.L424F
c.1272A>C
1 paper
NM_015330.6
p.L424F
c.1272A>T
4 papers
NM_015330.6
p.A416T
c.1246G>A
11 papers
NM_015330.6
p.Q415P
c.1244A>C
1 paper
NM_015330.6
p.Q415R
c.1244A>G
1 paper
NM_015330.6
p.Q415K
c.1243C>A
1 paper
NM_015330.6
p.L414H
c.1241T>A
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