Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.L575M

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.L575M
c.1723T>A
Surrounding Variants
1 paper
NM_024577.4
p.L575F
c.1725G>T
1 paper
NM_024577.4
p.N574S
c.1721A>G
1 paper
NM_024577.4
p.Y572N
c.1714T>A
2 papers
NM_024577.4
p.L571P
c.1712T>C
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.R583fs
c.1747_1748fs
2 papers
NM_024577.4
p.R583delFs
c.1747_1748delCT
1 paper
NM_024577.4
p.G560delFs
c.1679delC
1 paper
NM_024577.4
p.G560E
c.1679G>A
1 paper
NM_024577.4
p.A590T
c.1768G>A
1 paper
NM_024577.4
p.I555F
c.1663A>T
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