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.T1196insFs

c.3586dupA

Surrounding Variants

1 paper

NM_005219.5

p.T1196fs

c.3586_3587fs

2 papers

NM_005219.5

p.G1197S

c.3589G>A

2 papers

NM_005219.5

p.G1197D

c.3590G>A

1 paper

NM_001079812.3

p.G1184delFs

c.3551_3552delGC

1 paper

NM_005219.5

p.G1193G

c.3579C>T

1 paper

NM_005219.5

p.M1199L

c.3595A>T

1 paper

NM_005219.5

p.M1199V

c.3595A>G

1 paper

NM_005219.5

p.M1199L

c.3595A>C

1 paper

NM_005219.5

p.E1192delFs

c.3575_3576delCT

1 paper

NM_005219.5

p.E1192fs

c.3574_3575fs

1 paper

NM_005219.5

p.E1192Splc

c.3575-3C>G

1 paper

NM_005219.5

p.L1203V

c.3607C>G