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.T1462M

c.4385C>T

Surrounding Variants

1 paper

NM_015221.4

p.T1460fs

c.4378_4379fs

1 paper

NM_015221.4

p.P1459_T1460insFs

c.4377_4378insGT

1 paper

NM_015221.4

p.Q1458*

c.4372C>T

1 paper

NM_015221.4

p.R1467Q

c.4400G>A

1 paper

NM_015221.4

p.R1482*

c.4444C>T

2 papers

NM_015221.4

p.N1483S

c.4448A>G

1 paper

NM_015221.4

p.G1484W

c.4450G>T

1 paper

NM_015221.4

p.S1440S

c.4320C>T

1 paper

NM_015221.4

p.Q1498P

c.4493A>C

1 paper

NM_015221.4

p.P1500P

c.4500G>A

1 paper

NM_015221.4

p.P1424S

c.4270C>T

8 papers

NM_015221.4

p.C1413W

c.4239T>G