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.D382N

c.1144G>A

Surrounding Variants

2 papers

NM_020806.5

p.D382A

c.1145A>C

2 papers

NM_020806.5

p.D382E

c.1146T>A

2 papers

NM_020806.5

p.D382E

c.1146T>G

1 paper

NM_020806.5

p.P371S

c.1111C>T

1 paper

NM_020806.5

p.M369V

c.1105A>G

1 paper

NM_020806.5

p.E368K

c.1102G>A

1 paper

NM_020806.5

p.T365S

c.1093A>T

1 paper

NM_020806.5

p.I364I

c.1092C>T

1 paper

NM_020806.5

p.F363Y

c.1088T>A

1 paper

NM_020806.5

p.D360N

c.1078G>A

1 paper

NM_020806.5

p.V345L

c.1033G>C

1 paper

NM_020806.5

p.V345L

c.1033G>T