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.P666T

c.1996C>A

Surrounding Variants

1 paper

NM_005219.5

p.L669L

c.2005T>C

1 paper

NM_001079812.3

p.P661L

c.1982C>T

1 paper

NM_005219.5

p.G660V

c.1979G>T

1 paper

NM_005219.5

p.G660R

c.1978G>C

2 papers

NM_005219.5

p.P677insFs

c.2030dupC

12 papers

NM_005219.5

p.P678S

c.2032C>T

1 paper

NM_005219.5

p.L645delins

c.1934_1935delinsGC

1 paper

NM_005219.5

p.P643A

c.1927C>G

1 paper

NM_005219.5

p.L694insFs

c.2081_2082insC

1 paper

NM_005219.5

p.P695fs

c.2083_2084fs

1 paper

NM_005219.5

p.P695fs

c.2083_2084fs

4 papers

NM_005219.5

p.I700N

c.2099T>A