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

2 papers

NM_015221.4

p.M831T

c.2492T>C

Surrounding Variants

1 paper

NM_015221.4

p.S838L

c.2513C>T

1 paper

NM_015221.4

p.S838S

c.2514G>A

1 paper

NM_015221.4

p.M814T

c.2441T>C

1 paper

NM_015221.4

p.R809Q

c.2426G>A

1 paper

NM_015221.4

p.T756M

c.2267C>T

1 paper

NM_015221.4

p.K867K

c.2601G>A

1 paper

NM_015221.4

p.A878V

c.2633C>T

1 paper

NM_015221.4

p.D886N

c.2656G>A

1 paper

NM_015221.4

p.E887*

c.2659G>T

1 paper

NM_015221.4

p.A898V

c.2693C>T

1 paper

NM_015221.4

p.N905N

c.2715C>T

1 paper

NM_015221.4

p.G908*

c.2722G>T