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.P741L

c.2222C>T

Surrounding Variants

1 paper

NM_005219.5

p.P742A

c.2224C>G

1 paper

NM_005219.5

p.P739T

c.2215C>A

1 paper

NM_005219.5

p.P748L

c.2243C>T

2 papers

NM_005219.5

p.G734R

c.2200G>C

2 papers

NM_005219.5

p.G734R

c.2200G>A

1 paper

NM_005219.5

p.P731L

c.2192C>T

1 paper

NM_005219.5

p.G754delFs

c.2260delC

2 papers

NM_005219.5

p.L720F

c.2158C>T

2 papers

NM_005219.5

p.P719L

c.2156C>T

3 papers

NM_005219.5

p.P769S

c.2305C>T

1 paper

NM_005219.5

p.V777A

c.2330T>C

1 paper

NM_005219.5

p.P704fs

c.2110_2111fs