Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.R1018Splc

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.R1018Splc
c.3054-2A>G
Surrounding Variants
1 paper
NM_024577.4
p.T1025_C1026insFs
c.3075_3076insT
1 paper
NM_024577.4
p.E1045V
c.3134A>T
6 papers
NM_024577.4
p.L1048P
c.3143T>C
2 papers
NM_024577.4
p.G1051E
c.3152G>A
2 papers
NM_024577.4
p.R1052*
c.3154C>T
1 paper
NM_024577.4
p.L1053fs
c.3157_3158fs
1 paper
NM_024577.4
p.L1053insFs
c.3157dupC
1 paper
NM_024577.4
p.D1060D
c.3180C>T
1 paper
NM_024577.4
p.E1061K
c.3181G>A
1 paper
NM_024577.4
p.E1064D
c.3192G>T
1 paper
NM_024577.4
p.E1064D
c.3192G>C
2 papers
NM_024577.4
p.Q1068*
c.3202C>T
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