Varaico: Literature-Extracted Genetic Variants

GPHN

258 papers

RefSeq Summary

This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dim...

Pfam Domains

MoCF_biosynthaa 18–164UCSCProbable molybdopterin binding domain

MoeA_Naa 324–489UCSCMoeA N-terminal region (domain I and II)

MoCF_biosynthaa 502–645UCSCProbable molybdopterin binding domain

MoeA_Caa 658–733UCSCMoeA C-terminal region (domain IV)

Gene Aliases

HGNC Name

gephyrin

HGNC Alias Symbols

KIAA1385; GEPH; GPH

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_020806.5

p.T84_T85insFs

c.252_253insC

Surrounding Variants

1 paper

NM_020806.5

p.T85S

c.254C>G

1 paper

NM_020806.5

p.L83V

c.247T>G

1 paper

NM_020806.5

p.G89R

c.265G>A

1 paper

NM_020806.5

p.G89R

c.265G>C

2 papers

NM_020806.5

p.A91T

c.271G>A

1 paper

NM_020806.5

p.P92T

c.274C>A

1 paper

NM_020806.5

p.R93Q

c.278G>A

1 paper

NM_020806.5

p.W73C

c.219G>C

1 paper

NM_020806.5

p.W73C

c.219G>T

1 paper

NM_020806.5

p.T96delFs

c.287delC

1 paper

NM_020806.5

p.T96T

c.288T>G

1 paper

NM_020806.5

p.P97T

c.289C>A