Varaico: Literature-Extracted Genetic Variants

TECTA

467 papers

RefSeq Summary

The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the t...

Pfam Domains

NIDOaa 63–251UCSCNidogen-like

VWDaa 322–478UCSCvon Willebrand factor type D domain

C8aa 523–592UCSCC8 domain

TILaa 597–650UCSCTrypsin Inhibitor like cysteine rich domain

TILaaa 651–706UCSCTILa domain

VWDaa 713–866UCSCvon Willebrand factor type D domain

Gene Aliases

HGNC Name

tectorin alpha

HGNC Previous Symbols

DFNA12; DFNA8; DFNB21

Papers

RefSeq ID

Protein change

DNA change

1–12 of 1002 variants

42 papers

NM_005422.4

p.Y1870C

c.5609A>G

34 papers

NM_005422.4

p.C1509G

c.4525T>G

34 papers

NM_005422.4

p.T1866M

c.5597C>T

33 papers

NM_005422.4

p.R1890C

c.5668C>T

31 papers

NM_005422.4

p.C1837G

c.5509T>G

29 papers

NM_005422.4

p.R2021H

c.6062G>A

28 papers

NM_005422.4

p.G1824D

c.5471G>A

25 papers

NM_005422.4

p.L1820F

c.5458C>T

24 papers

NM_005422.4

p.P1791R

c.5372C>G

23 papers

NM_005422.4

p.N886S

c.2657A>G

23 papers

NM_005422.4

p.C1036Y

c.3107G>A

23 papers

NM_005422.4

p.P1248L

c.3743C>T