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.H13Y

c.37C>T

Surrounding Variants

1 paper

NM_020806.5

p.Q14*

c.40C>T

1 paper

NM_020806.5

p.Q14H

c.42A>T

1 paper

NM_020806.5

p.I15_R16insFs

c.45_46insT

4 papers

NM_020806.5

p.N10Y

c.28A>T

1 paper

NM_020806.5

p.T9S

c.26C>G

1 paper

NM_020806.5

p.T9I

c.26C>T

1 paper

NM_020806.5

p.T9S

c.25A>T

1 paper

NM_020806.5

p.G18R

c.52G>A

1 paper

NM_020806.5

p.G18R

c.52G>C

6 papers

NM_020806.5

p.V19I

c.55G>A

1 paper

NM_020806.5

p.V19V

c.57C>T

1 paper

NM_020806.5

p.T21fs

c.61_62fs