Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.L662P

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.L662P
c.1985T>C
Surrounding Variants
3 papers
NM_024577.4
p.L661P
c.1982T>C
4 papers
NM_024577.4
p.R658H
c.1973G>A
13 papers
NM_024577.4
p.R658C
c.1972C>T
14 papers
NM_024577.4
p.E657K
c.1969G>A
1 paper
NM_024577.4
p.A673T
c.2017G>A
1 paper
NM_024577.4
p.E650K
c.1948G>A
1 paper
NM_024577.4
p.V675I
c.2023G>A
3 papers
NM_024577.4
p.L676F
c.2028G>T
3 papers
NM_024577.4
p.L676F
c.2028G>C
3 papers
NM_024577.4
p.R648W
c.1942C>T
1 paper
NM_024577.4
p.L646L
c.1936C>T
1 paper
NM_024577.4
p.L679P
c.2036T>C
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