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

3 papers

NM_015221.4

p.R271*

c.811C>T

Surrounding Variants

1 paper

NM_015221.4

p.F264F

c.792C>T

1 paper

NM_015221.4

p.W280*

c.839G>A

1 paper

NM_015221.4

p.A250T

c.748G>A

1 paper

NM_015221.4

p.D240E

c.720T>G

1 paper

NM_015221.4

p.D240E

c.720T>A

1 paper

NM_015221.4

p.R304W

c.910C>T

1 paper

NM_015221.4

p.G315V

c.944G>T

1 paper

NM_015221.4

p.S316N

c.947G>A

1 paper

NM_015221.4

p.D326Y

c.976G>T

1 paper

NM_015221.4

p.S211L

c.632C>T

1 paper

NM_015221.4

p.P204S

c.610C>T

1 paper

NM_015221.4

p.L201P

c.602T>C