Varaico: Literature-Extracted Genetic Variants

DIAPH3

180 papers

RefSeq Summary

This gene encodes a member of the diaphanous subfamily of the formin family. Members of this family are involved in actin remodeling and regulate cell movement and adhesion. Mutations in this gene are...

Pfam Domains

Drf_GBDaa 113–297UCSCDiaphanous GTPase-binding Domain

Drf_FH3aa 300–488UCSCDiaphanous FH3 Domain

FH2aa 636–1009UCSCFormin Homology 2 Domain

Gene Aliases

HGNC Name

diaphanous related formin 3

HGNC Previous Symbol

AUNA1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_001042517.2

p.K1017R

c.3050A>G

Surrounding Variants

1 paper

NM_001042517.2

p.R1019insFs

c.3055dupA

1 paper

NM_001042517.2

p.R1019delFs

c.3055delT

1 paper

NM_001042517.2

p.R1019fs

c.3055_3056fs

1 paper

NM_001042517.2

p.E1022_E1023insT

c.3064_3068ins3

1 paper

NM_001042517.2

p.I1012_K1013insT

c.3034_3038ins3

3 papers

NM_001042517.2

p.R1042C

c.3124C>T

3 papers

NM_001042517.2

p.R1042H

c.3125G>A

1 paper

NM_001042517.2

p.R1048G

c.3142C>G

1 paper

NM_001042517.2

p.E1055Splc

c.3163+8015C>G