Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.L135insFs

SH3TC2

374 papers

RefSeq Summary

This gene encodes a protein with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to...

Pfam Domains

SH3_1aa 274–323UCSCSH3 domain

Gene Aliases

HGNC Name

SH3 domain and tetratricopeptide repeats 2

HGNC Alias Symbols

KIAA1985; CMT4C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024577.4
p.L135insFs
c.403_404insT
Surrounding Variants
1 paper
NM_024577.4
p.L135V
c.403C>G
1 paper
NM_024577.4
p.L135R
c.404T>G
1 paper
NM_024577.4
p.S132S
c.396C>T
1 paper
NM_024577.4
p.L139P
c.416T>C
1 paper
NM_024577.4
p.Y130Y
c.390C>T
1 paper
NM_024577.4
p.L139del1
c.415_417delGAG
2 papers
NM_024577.4
p.G129Splc
c.386-2A>C
1 paper
NM_024577.4
p.D141A
c.422A>C
1 paper
NM_024577.4
p.H142Y
c.424C>T
1 paper
NM_024577.4
p.W145*
c.435G>A
1 paper
NM_024577.4
p.L146F
c.436C>T
1 paper
NM_024577.4
p.V151insFs
c.452dupT
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