Varaico: Literature-Extracted Genetic Variants

Gene:C12orf57
Variant:p.L51Q

C12orf57

156 papers

RefSeq Summary

This gene is ubiquitously expressed in human tissues. It is required for development of the human corpus callosum. Mutations in this gene are associated with Temtamy syndrome (TEMTYS). Multiple altern...

Pfam Domains

P_C10aa 12–120UCSCProtein C10

Gene Aliases

HGNC Name

chromosome 12 open reading frame 57

HGNC Alias Symbols

GRCC10; C10

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
8 papers
NM_138425.4
p.L51Q
c.152T>A
Surrounding Variants
1 paper
NM_138425.4
p.L51V
c.151C>G
1 paper
NM_138425.4
p.L51L
c.151C>T
1 paper
NM_138425.4
p.M50T
c.149T>C
1 paper
NM_138425.4
p.F53_V54del2
c.157_161del6
1 paper
NM_138425.4
p.K49*
c.145A>T
1 paper
NM_138425.4
p.V54delFs
c.161_162delTG
1 paper
NM_138425.4
p.V54_L55insT
c.160_164ins3
1 paper
NM_138425.4
p.V54fs
c.160_161fs
1 paper
NM_138425.4
p.L55_P56insT
c.163_167ins3
1 paper
NM_138425.4
p.M47I
c.141G>A
1 paper
NM_138425.4
p.L55P
c.164T>C
1 paper
NM_138425.4
p.D46D
c.138C>T
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