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

30 papers

NM_005219.5

p.R1213*

c.3637C>T

NM_001079812.3

p.R1204*

c.3610C>T

Surrounding Variants

3 papers

NM_005219.5

p.A1211_F1212delFs

c.3633_3636del4

1 paper

NM_005219.5

p.F1212fs

c.3634_3635fs

2 papers

NM_005219.5

p.A1210delFs

c.3629_3630delTG

2 papers

NM_005219.5

p.A1210G

c.3629C>G

4 papers

NM_005219.5

p.A1210S

c.3628G>T

6 papers

NM_005219.5

p.A1210fs

c.3628_3629fs

5 papers

NM_005219.5

p.S1208_G1209delFs

c.3624_3625delCT

10 papers

NM_005219.5

p.A1221Splc

c.3661+1G>T

1 paper

NM_005219.5

p.L1203P

c.3608T>C

1 paper

NM_005219.5

p.L1203V

c.3607C>G

1 paper

NM_005219.5

p.M1199L

c.3595A>T

1 paper

NM_005219.5

p.M1199V

c.3595A>G