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.M502V

c.1504A>G

Surrounding Variants

1 paper

NM_005219.5

p.E501*

c.1501G>T

1 paper

NM_005219.5

p.E497K

c.1489G>A

1 paper

NM_005219.5

p.D508E

c.1524C>A

1 paper

NM_005219.5

p.E510K

c.1528G>A

1 paper

NM_005219.5

p.T493I

c.1478C>T

1 paper

NM_005219.5

p.Q517*

c.1549C>T

1 paper

NM_005219.5

p.E526Q

c.1576G>C

12 papers

NM_005219.5

p.I530S

c.1589T>G

1 paper

NM_005219.5

p.D536Y

c.1606G>T

1 paper

NM_005219.5

p.P584fs

c.1750_1751fs

1 paper

NM_005219.5

p.P584delFs

c.1752delA

1 paper

NM_005219.5

p.P587S

c.1759C>T