Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.P977L

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.P977L
c.2930C>T
Surrounding Variants
1 paper
NM_024577.4
p.C980F
c.2939G>T
1 paper
NM_024577.4
p.Y970*
c.2910C>G
1 paper
NM_024577.4
p.Y970*
c.2910C>A
1 paper
NM_024577.4
p.T963I
c.2888C>T
1 paper
NM_024577.4
p.S958insFs
c.2873_2874insA
1 paper
NM_024577.4
p.R997Q
c.2990G>A
1 paper
NM_024577.4
p.R997delFs
c.2989delG
1 paper
NM_024577.4
p.R997fs
c.2989_2990fs
1 paper
NM_024577.4
p.S958Splc
c.2873-14T>A
1 paper
NM_024577.4
p.E1005*
c.3013G>T
1 paper
NM_024577.4
p.S1006delFs
c.3016delA
1 paper
NM_024577.4
p.S1006fs
c.3016_3017fs
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