Varaico: Literature-Extracted Genetic Variants

DIAPH1

309 papers

RefSeq Summary

This gene is a homolog of the Drosophila diaphanous gene, and has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss. Actin polymeriz...

Pfam Domains

Drf_GBDaa 84–268UCSCDiaphanous GTPase-binding Domain

Drf_FH3aa 276–460UCSCDiaphanous FH3 Domain

Drf_FH1aa 614–690UCSCFormin Homology Region 1

Drf_FH1aa 657–764UCSCFormin Homology Region 1

FH2aa 769–1146UCSCFormin Homology 2 Domain

Drf_DADaa 1197–1211UCSCDRF Autoregulatory Domain

Gene Aliases

HGNC Name

diaphanous related formin 1

HGNC Previous Symbol

DFNA1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005219.5

p.N213D

c.637A>G

Surrounding Variants

1 paper

NM_005219.5

p.R212Q

c.635G>A

1 paper

NM_005219.5

p.H215Y

c.643C>T

1 paper

NM_005219.5

p.D210D

c.630T>C

1 paper

NM_005219.5

p.D210N

c.628G>A

1 paper

NM_005219.5

p.Y209*

c.627C>G

1 paper

NM_005219.5

p.Y209*

c.627C>A

1 paper

NM_001079812.3

p.E207D

c.621G>C

1 paper

NM_005219.5

p.Y209S

c.626A>C

1 paper

NM_005219.5

p.I217L

c.649A>C

1 paper

NM_005219.5

p.S208R

c.622A>C

1 paper

NM_005219.5

p.C220R

c.658T>C

1 paper

NM_005219.5

p.C220*

c.660C>A