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

1–12 of 206 variants

6 papers

NM_020806.5

p.V19I

c.55G>A

4 papers

NM_020806.5

p.N10Y

c.28A>T

3 papers

NM_020806.5

p.V43L

c.127G>C

3 papers

NM_020806.5

p.V43L

c.127G>T

3 papers

NM_020806.5

p.R276_I277Splc

c.828+1G>A

2 papers

NM_020806.5

p.H13Y

c.37C>T

2 papers

NM_020806.5

p.Q44*

c.130C>T

2 papers

NM_020806.5

p.T84_T85insFs

c.252_253insC

2 papers

NM_020806.5

p.A91T

c.271G>A

2 papers

NM_020806.5

p.P145L

c.434C>T

2 papers

NM_020806.5

p.P290S

c.868C>T

2 papers

NM_020806.5

p.D382N

c.1144G>A