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.N1029_F1030insFs

c.3087_3088insA

Surrounding Variants

1 paper

NM_015221.4

p.R1031*

c.3091C>T

2 papers

NM_015221.4

p.R1052W

c.3154C>T

1 paper

NM_015221.4

p.Q1017_I1018Splc

c.3051+42C>T

1 paper

NM_015221.4

p.L1008L

c.3022C>T

1 paper

NM_015221.4

p.D983delFs

c.2947_2948delTC

1 paper

NM_015221.4

p.R1052_E1053Splc

c.3156+1767C>G

1 paper

NM_015221.4

p.K968R

c.2903A>G

1 paper

NM_015221.4

p.E966K

c.2896G>A

1 paper

NM_015221.4

p.K958N

c.2874G>T

1 paper

NM_015221.4

p.T951_N952delFs

c.2852_2855del4

1 paper

NM_015221.4

p.T951fs

c.2851_2852fs

1 paper

NM_015221.4

p.P941R

c.2822C>G