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

4 papers

NM_005219.5

p.P703insFs

c.2108dupC

Surrounding Variants

4 papers

NM_005219.5

p.P703fs

c.2107_2108fs

2 papers

NM_005219.5

p.P703delFs

c.2108delG

4 papers

NM_005219.5

p.P704fs

c.2110_2111fs

1 paper

NM_005219.5

p.P703L

c.2108C>T

2 papers

NM_005219.5

p.P703fs

c.2107_2108fs

1 paper

NM_005219.5

p.P704fs

c.2110_2111fs

1 paper

NM_005219.5

p.P702L

c.2105C>T

4 papers

NM_005219.5

p.I700N

c.2099T>A

1 paper

NM_005219.5

p.P695fs

c.2083_2084fs

1 paper

NM_005219.5

p.P695fs

c.2083_2084fs

1 paper

NM_005219.5

p.L694insFs

c.2081_2082insC

2 papers

NM_005219.5

p.P719L

c.2156C>T