Varaico: Literature-Extracted Genetic Variants

DNMBP

119 papers

RefSeq Summary

This gene encodes a protein belonging to the guanine nucleotide exchange factor family, and which regulates the configuration of cell junctions. It contains multiple binding sites for dynamin and thus...

Pfam Domains

SH3_1aa 8–53UCSCSH3 domain

SH3_2aa 70–124UCSCVariant SH3 domain

SH3_9aa 152–200UCSCVariant SH3 domain

SH3_1aa 249–294UCSCSH3 domain

RhoGEFaa 788–965UCSCRhoGEF domain

BARaa 997–1209UCSCBAR domain

Gene Aliases

HGNC Name

dynamin binding protein

HGNC Alias Symbols

KIAA1010; ARHGEF36

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015221.4

p.G383E

c.1148G>A

Surrounding Variants

1 paper

NM_015221.4

p.E378*

c.1132G>T

1 paper

NM_015221.4

p.N373K

c.1119C>G

1 paper

NM_015221.4

p.N373K

c.1119C>A

1 paper

NM_015221.4

p.E347K

c.1039G>A

1 paper

NM_015221.4

p.Y430_S431del1

c.1289_1291delAAT

1 paper

NM_015221.4

p.Y430_S431del2

c.1288_1292del6

1 paper

NM_015221.4

p.D326Y

c.976G>T

1 paper

NM_015221.4

p.S316N

c.947G>A

1 paper

NM_015221.4

p.G315V

c.944G>T

1 paper

NM_015221.4

p.A457S

c.1369G>T

1 paper

NM_015221.4

p.P461H

c.1382C>A

1 paper

NM_015221.4

p.R304W

c.910C>T