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.K59_E60delFs

c.177_180del4

Surrounding Variants

1 paper

NM_005219.5

p.E62K

c.184G>A

1 paper

NM_005219.5

p.M55delFs

c.164delA

1 paper

NM_001079812.3

p.A58T

c.172G>A

6 papers

NM_005219.5

p.A67V

c.200C>T

1 paper

NM_005219.5

p.S71P

c.211T>C

1 paper

NM_005219.5

p.A73T

c.217G>A

1 paper

NM_005219.5

p.E48_L49Splc

c.145-1G>A

1 paper

NM_005219.5

p.Y75H

c.223T>C

1 paper

NM_005219.5

p.S71_G76del0

c.212_226del15

1 paper

NM_005219.5

p.P79S

c.235C>T

3 papers

NM_005219.5

p.P79delFs

c.235delG

1 paper

NM_005219.5

p.S83P

c.247T>C