Varaico: Literature-Extracted Genetic Variants

Gene:STRC
Variant:p.L1639_L1640delins

STRC

178 papers

RefSeq Summary

This gene encodes a protein that is associated with the hair bundle of the sensory hair cells in the inner ear. The hair bundle is composed of stiff microvilli called stereocilia and is involved with ...

Pfam Domains

Stereocilinaa 661–1076UCSCStereocilin

Gene Aliases

HGNC Name

stereocilin

HGNC Previous Symbol

DFNB16

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_153700.2
p.L1639_L1640delins
c.4917_4918delinsCT
Surrounding Variants
12 papers
NM_153700.2
p.L1640F
c.4918C>T
1 paper
NM_153700.2
p.L1640R
c.4919T>G
1 paper
NM_153700.2
p.L1639_L1640delFs
c.4917_4918delGT
1 paper
NM_153700.2
p.L1639L
c.4917A>C
2 papers
NM_153700.2
p.V1635F
c.4903G>T
1 paper
NM_153700.2
p.G1645A
c.4934G>C
1 paper
NM_153700.2
p.Q1632*
c.4894C>T
1 paper
NM_153700.2
p.C1628R
c.4882T>C
1 paper
NM_153700.2
p.C1628S
c.4882T>A
1 paper
NM_153700.2
p.L1626L
c.4878C>G
1 paper
NM_153700.2
p.P1654P
c.4962T>G
1 paper
NM_153700.2
p.S1615S
c.4845C>T
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