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.R276_I277Splc

c.828+1G>A

Surrounding Variants

1 paper

NM_020806.5

p.R276G

c.826C>G

1 paper

NM_020806.5

p.E275A

c.824A>C

1 paper

NM_020806.5

p.H270P

c.809A>C

1 paper

NM_020806.5

p.S269F

c.806C>T

1 paper

NM_020806.5

p.N267S

c.800A>G

1 paper

NM_020806.5

p.N267D

c.799A>G

1 paper

NM_020806.5

p.I262M

c.786C>G

1 paper

NM_020806.5

p.A256V

c.767C>T

1 paper

NM_020806.5

p.P251S

c.751C>T

1 paper

NM_020806.5

p.K244R

c.731A>G

1 paper

NM_020806.5

p.I240L

c.718A>C

1 paper

NM_020806.5

p.A239G

c.716C>G