Varaico: Literature-Extracted Genetic Variants

Gene:SPECC1L
Variant:p.R461Q

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
5 papers
NM_015330.6
p.R461Q
c.1382G>A
Surrounding Variants
1 paper
NM_015330.6
p.R461P
c.1382G>C
1 paper
NM_015330.6
p.I463V
c.1387A>G
1 paper
NM_015330.6
p.I479L
c.1435A>C
1 paper
NM_015330.6
p.R437G
c.1309A>G
1 paper
NM_015330.6
p.R487C
c.1459C>T
4 papers
NM_015330.6
p.R487H
c.1460G>A
1 paper
NM_015330.6
p.E434K
c.1300G>A
1 paper
NM_015330.6
p.N432_E434del3
c.1294_1301del9
1 paper
NM_015330.6
p.L431P
c.1292T>C
1 paper
NM_015330.6
p.Q493*
c.1477C>T
1 paper
NM_015330.6
p.L424F
c.1272A>C
1 paper
NM_015330.6
p.L424F
c.1272A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."