Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.R1109_A1110Splc

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.R1109_A1110Splc
c.3327+2T>C
Surrounding Variants
4 papers
NM_024577.4
p.R1109P
c.3326G>C
49 papers
NM_024577.4
p.R1109*
c.3325C>T
1 paper
NM_024577.4
p.Y1107*
c.3321C>G
1 paper
NM_024577.4
p.Y1107*
c.3321C>A
3 papers
NM_024577.4
p.V1105M
c.3313G>A
2 papers
NM_024577.4
p.H1102delFs
c.3305delT
1 paper
NM_024577.4
p.R1101delFs
c.3303delC
1 paper
NM_024577.4
p.R1101fs
c.3301_3302fs
2 papers
NM_024577.4
p.R1099C
c.3295C>T
2 papers
NM_024577.4
p.T1098I
c.3293C>T
1 paper
NM_024577.4
p.T1098fs
c.3292_3293fs
3 papers
NM_024577.4
p.T1098P
c.3292A>C
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