Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.V852fs

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.V852fs
c.2554_2555fs
Surrounding Variants
1 paper
NM_024577.4
p.R851_V852insFs
c.2551_2554dup4
1 paper
NM_024577.4
p.G850D
c.2549G>A
1 paper
NM_024577.4
p.A856T
c.2566G>A
1 paper
NM_024577.4
p.G843V
c.2528G>T
1 paper
NM_024577.4
p.R861W
c.2581C>T
1 paper
NM_024577.4
p.R865_A866insFs
c.2595_2596dupAG
2 papers
NM_024577.4
p.Q867*
c.2599C>T
2 papers
NM_024577.4
p.L832fs
c.2494_2495fs
4 papers
NM_024577.4
p.S831delFs
c.2491_2492delCT
1 paper
NM_024577.4
p.S831N
c.2492G>A
1 paper
NM_024577.4
p.H873Y
c.2617C>T
1 paper
NM_024577.4
p.E830*
c.2488G>T
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