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.P290S

c.868C>T

Surrounding Variants

1 paper

NM_020806.5

p.D279A

c.836A>C

1 paper

NM_020806.5

p.S303L

c.908C>T

1 paper

NM_020806.5

p.R305H

c.914G>A

1 paper

NM_020806.5

p.A306T

c.916G>A

1 paper

NM_020806.5

p.Q307P

c.920A>C

1 paper

NM_020806.5

p.T314T

c.942A>G