Varaico: Literature-Extracted Genetic Variants

EHBP1

85 papers

RefSeq Summary

This gene encodes an Eps15 homology domain binding protein. The encoded protein may play a role in endocytic trafficking. A single nucleotide polymorphism in this gene is associated with an aggressive...

Pfam Domains

NT-C2aa 12–165UCSCN-terminal C2 in EEIG1 and EHBP1 proteins

CHaa 443–549UCSCCalponin homology (CH) domain

bMERB_domaa 1074–1210UCSCBivalent Mical/EHBP Rab binding domain

Gene Aliases

HGNC Name

EH domain binding protein 1

HGNC Alias Symbols

KIAA0903; NACSIN

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001142616.3

p.H593R

c.1778A>G

Surrounding Variants

1 paper

NM_001142616.3

p.S603T

c.1808G>C

2 papers

NM_001142616.3

p.R610H

c.1829G>A

1 paper

NM_015252.5

p.S659N

c.1976G>A

1 paper

NM_001142616.3

p.R627K

c.1880G>A

1 paper

NM_001142616.3

p.D555V

c.1664A>T

1 paper

NM_001142616.3

p.S631_D632insFs

c.1893_1894dupTG

1 paper

NM_001142616.3

p.D632N

c.1894G>A

1 paper

NM_001142616.3

p.P677H

c.2030C>A

1 paper

NM_001142616.3

p.E703K

c.2107G>A

1 paper

NM_001142616.3

p.R706I

c.2117G>T

1 paper

NM_001142616.3

p.S712*

c.2135C>A

1 paper

NM_001142616.3

p.T721insFs

c.2161dupA