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.I61V

c.181A>G

Surrounding Variants

1 paper

NM_015221.4

p.G49A

c.146G>C

1 paper

NM_015221.4

p.N84Y

c.250A>T

1 paper

NM_015221.4

p.E45K

c.133G>A

1 paper

NM_015221.4

p.L41insFs

c.121dupC

1 paper

NM_015221.4

p.F38L

c.114T>G

1 paper

NM_015221.4

p.F38L

c.114T>A

1 paper

NM_015221.4

p.F38L

c.112T>C

1 paper

NM_015221.4

p.D36N

c.106G>A

1 paper

NM_015221.4

p.V17I

c.49G>A

1 paper

NM_015221.4

p.M1K

c.2T>A