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.R151W

c.451C>T

Surrounding Variants

1 paper

NM_015221.4

p.L153L

c.459A>G

1 paper

NM_015221.4

p.E144delFs

c.430_431delTC

3 papers

NM_015221.4

p.A138T

c.412G>A

1 paper

NM_015221.4

p.Q132H

c.396G>T

1 paper

NM_015221.4

p.Q132H

c.396G>C

1 paper

NM_015221.4

p.R122C

c.364C>T

1 paper

NM_015221.4

p.G111_A112delins

c.333_334delinsGA

1 paper

NM_015221.4

p.P195fs

c.583_584fs

1 paper

NM_015221.4

p.L201P

c.602T>C

1 paper

NM_015221.4

p.P204S

c.610C>T

1 paper

NM_015221.4

p.S211L

c.632C>T

1 paper

NM_015221.4

p.D240E

c.720T>G