Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.E553*

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
4 papers
NM_024577.4
p.E553*
c.1657G>T
Surrounding Variants
1 paper
NM_024577.4
p.I555F
c.1663A>T
1 paper
NM_024577.4
p.R548W
c.1642A>T
1 paper
NM_024577.4
p.G560E
c.1679G>A
1 paper
NM_024577.4
p.G560delFs
c.1679delC
1 paper
NM_024577.4
p.I539_K541del3
c.1615_1622del9
1 paper
NM_024577.4
p.S538del1
c.1612_1613delGCT
1 paper
NM_024577.4
p.R536_S538del0
c.1606_1614del9
1 paper
NM_024577.4
p.V568L
c.1702G>T
1 paper
NM_024577.4
p.V568L
c.1702G>C
1 paper
NM_024577.4
p.R536Q
c.1607G>A
2 papers
NM_024577.4
p.L571P
c.1712T>C
1 paper
NM_024577.4
p.Y572N
c.1714T>A
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