Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.L808L

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.L808L
c.2424A>G
Surrounding Variants
1 paper
NM_024577.4
p.Q811*
c.2431C>T
1 paper
NM_024577.4
p.Q788H
c.2364G>T
1 paper
NM_024577.4
p.Q788H
c.2364G>C
1 paper
NM_024577.4
p.Q788*
c.2362C>T
1 paper
NM_024577.4
p.E830*
c.2488G>T
1 paper
NM_024577.4
p.S831N
c.2492G>A
4 papers
NM_024577.4
p.S831delFs
c.2491_2492delCT
2 papers
NM_024577.4
p.L832fs
c.2494_2495fs
3 papers
NM_024577.4
p.L780P
c.2339T>C
2 papers
NM_024577.4
p.G775S
c.2323G>A
1 paper
NM_024577.4
p.D774D
c.2322C>T
1 paper
NM_024577.4
p.G843V
c.2528G>T
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