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

1 paper

NM_020806.5

p.R170L

c.509G>T

Surrounding Variants

1 paper

NM_020806.5

p.R170H

c.509G>A

1 paper

NM_020806.5

p.L168R

c.503T>G

1 paper

NM_020806.5

p.L168V

c.502C>G

1 paper

NM_020806.5

p.I173V

c.517A>G

1 paper

NM_020806.5

p.I173S

c.518T>G

1 paper

NM_020806.5

p.A165T

c.493G>A

1 paper

NM_020806.5

p.E178D

c.534G>C

1 paper

NM_020806.5

p.E178D

c.534G>T

1 paper

NM_020806.5

p.V179L

c.535G>C

1 paper

NM_020806.5

p.V179L

c.535G>T

1 paper

NM_020806.5

p.A161T

c.481G>A

1 paper

NM_020806.5

p.V179V

c.537G>C