Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.A691fs

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.A691fs
c.2071_2072fs
Surrounding Variants
1 paper
NM_024577.4
p.H696R
c.2087A>G
1 paper
NM_024577.4
p.A691_G697delFs
c.2072_2090del19
1 paper
NM_024577.4
p.L685F
c.2053C>T
1 paper
NM_024577.4
p.Q699*
c.2095C>T
2 papers
NM_024577.4
p.Y680C
c.2039A>G
1 paper
NM_024577.4
p.L679P
c.2036T>C
3 papers
NM_024577.4
p.L676F
c.2028G>T
3 papers
NM_024577.4
p.L676F
c.2028G>C
1 paper
NM_024577.4
p.V675I
c.2023G>A
3 papers
NM_024577.4
p.Q710*
c.2128C>T
1 paper
NM_024577.4
p.A673T
c.2017G>A
1 paper
NM_024577.4
p.L662P
c.1985T>C
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