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.P587S

c.1759C>T

Surrounding Variants

1 paper

NM_005219.5

p.P584delFs

c.1752delA

1 paper

NM_005219.5

p.P584fs

c.1750_1751fs

1 paper

NM_005219.5

p.G590V

c.1769G>T

1 paper

NM_005219.5

p.A601insFs

c.1801_1802insA

1 paper

NM_005219.5

p.P608ins4

c.1823_1824ins12

1 paper

NM_005219.5

p.P609ins1

c.1826_1827insTCC

1 paper

NM_005219.5

p.P609ins2

c.1826_1827ins6

1 paper

NM_005219.5

p.P613insFs

c.1838dupC

1 paper

NM_005219.5

p.P614fs

c.1840_1841fs

1 paper

NM_005219.5

p.P617S

c.1849C>T

1 paper

NM_005219.5

p.P617_P618ins0

c.1851_1853dupTCC

7 papers

NM_005219.5

p.P608del1

c.1822_1823delAGG