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

1–12 of 89 variants

6 papers

NM_001142616.3

p.K395_P396Splc

c.1185+30064G>A

4 papers

NM_001142616.3

p.K720Q

c.2158A>C

2 papers

NM_001142616.3

p.F138L

c.412T>C

2 papers

NM_001142616.3

p.F138L

c.414C>A

2 papers

NM_001142616.3

p.F138L

c.414C>G

2 papers

NM_001142616.3

p.R610H

c.1829G>A

2 papers

NM_001142616.3

p.R828W

c.2482C>T

1 paper

NM_001142616.3

p.M1T

c.2T>C

1 paper

NM_001142616.3

p.M1I

c.3G>A

1 paper

NM_001142616.3

p.M1I

c.3G>C

1 paper

NM_001142616.3

p.M1I

c.3G>T

1 paper

NM_001142616.3

p.F18L

c.52T>C