Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.R904*

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
15 papers
NM_024577.4
p.R904*
c.2710C>T
Surrounding Variants
1 paper
NM_024577.4
p.Y898delFs
c.2693_2694delAT
1 paper
NM_024577.4
p.Y898fs
c.2692_2693fs
1 paper
NM_024577.4
p.Y898C
c.2693A>G
1 paper
NM_024577.4
p.R896K
c.2687G>A
5 papers
NM_024577.4
p.Q892*
c.2674C>T
4 papers
NM_024577.4
p.W925*
c.2774G>A
4 papers
NM_024577.4
p.W925*
c.2775G>A
1 paper
NM_024577.4
p.N881I
c.2642A>T
9 papers
NM_024577.4
p.N881S
c.2642A>G
1 paper
NM_024577.4
p.A880delFs
c.2640delG
2 papers
NM_024577.4
p.Q928*
c.2782C>T
1 paper
NM_024577.4
p.M879L
c.2635A>T
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