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.A536A

c.1608A>G

Surrounding Variants

1 paper

NM_015221.4

p.D543Y

c.1627G>T

1 paper

NM_015221.4

p.I557F

c.1669A>T

1 paper

NM_015221.4

p.E560K

c.1678G>A

1 paper

NM_015221.4

p.P566P

c.1698C>T

2 papers

NM_015221.4

p.T506I

c.1517C>T

1 paper

NM_015221.4

p.R480R

c.1440G>A

1 paper

NM_015221.4

p.T470fs

c.1408_1409fs

1 paper

NM_015221.4

p.P611P

c.1833G>A

1 paper

NM_015221.4

p.P461H

c.1382C>A

1 paper

NM_015221.4

p.A457S

c.1369G>T

1 paper

NM_015221.4

p.Y430_S431del2

c.1288_1292del6

1 paper

NM_015221.4

p.Y430_S431del1

c.1289_1291delAAT