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.E1274K

c.3820G>A

Surrounding Variants

1 paper

NM_015221.4

p.Y1284C

c.3851A>G

1 paper

NM_015221.4

p.L1289_Q1291del3

c.3865_3872del9

1 paper

NM_015221.4

p.F1296F

c.3888C>T

1 paper

NM_015221.4

p.K1316N

c.3948G>T

1 paper

NM_015221.4

p.K1316N

c.3948G>C

1 paper

NM_015221.4

p.E1158*

c.3472G>T

1 paper

NM_015221.4

p.N1156S

c.3467A>G

3 papers

NM_015221.4

p.R1137Q

c.3410G>A

1 paper

NM_015221.4

p.T1135A

c.3403A>G

1 paper

NM_015221.4

p.S1105F

c.3314C>T

1 paper

NM_015221.4

p.F1095_K1096Splc

c.3286-76G>C

1 paper

NM_015221.4

p.E1366D

c.4098G>T