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

8 papers

NM_005219.5

p.F923fs

c.2767_2768fs

Surrounding Variants

7 papers

NM_005219.5

p.F923delFs

c.2769delA

4 papers

NM_005219.5

p.F923fs

c.2767_2768fs

1 paper

NM_005219.5

p.E909fs

c.2725_2726fs

1 paper

NM_005219.5

p.L907F

c.2719C>T

1 paper

NM_005219.5

p.M906I

c.2718G>T

1 paper

NM_005219.5

p.M906I

c.2718G>C

1 paper

NM_005219.5

p.M906I

c.2718G>A

2 papers

NM_005219.5

p.R932*

c.2794C>T

1 paper

NM_005219.5

p.R934W

c.2800C>T

1 paper

NM_005219.5

p.R936C

c.2806C>T

1 paper

NM_005219.5

p.R936H

c.2807G>A

1 paper

NM_005219.5

p.R968C

c.2902C>T