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

3 papers

NM_020806.5

p.V43L

c.127G>C

Surrounding Variants

1 paper

NM_020806.5

p.V43I

c.127G>A

3 papers

NM_020806.5

p.V43L

c.127G>T

1 paper

NM_020806.5

p.L42V

c.124C>G

2 papers

NM_020806.5

p.Q44*

c.130C>T

1 paper

NM_020806.5

p.K40Q

c.118A>C

1 paper

NM_020806.5

p.K40E

c.118A>G

1 paper

NM_020806.5

p.L39L

c.117C>T

1 paper

NM_020806.5

p.N38K

c.114T>A

1 paper

NM_020806.5

p.N38K

c.114T>G

1 paper

NM_020806.5

p.L48Splc

c.143+5G>A

1 paper

NM_020806.5

p.E32A

c.95A>C

1 paper

NM_020806.5

p.E32Q

c.94G>C