Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.Q622P

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.Q622P
c.1865A>C
Surrounding Variants
1 paper
NM_024577.4
p.Y618Y
c.1854C>T
1 paper
NM_024577.4
p.A617_Y618insA
c.1849_1853ins3
3 papers
NM_024577.4
p.E632K
c.1894G>A
2 papers
NM_024577.4
p.E632fs
c.1894_1895fs
1 paper
NM_024577.4
p.E632fs
c.1894_1895fs
1 paper
NM_024577.4
p.E632_A633Fs
c.1896_1897delinsAFs
4 papers
NM_024577.4
p.E632_A633Fs
c.1894_1897delinsAAAFs
1 paper
NM_024577.4
p.A633delFs
c.1897delC
1 paper
NM_024577.4
p.E632_A633delFs
c.1894_1897del4
1 paper
NM_024577.4
p.A633fs
c.1897_1898fs
1 paper
NM_024577.4
p.E606delFs
c.1817_1818delCT
2 papers
NM_024577.4
p.A639fs
c.1915_1916fs
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