Varaico: Literature-Extracted Genetic Variants

AGRN

643 papers

RefSeq Summary

This gene encodes one of several proteins that are critical in the development of the neuromuscular junction (NMJ), as identified in mouse knock-out studies. The encoded protein contains several lamin...

Pfam Domains

NtAaa 37–156UCSCAgrin NtA domain

Kazal_2aa 197–242UCSCKazal-type serine protease inhibitor domain

Kazal_2aa 271–317UCSCKazal-type serine protease inhibitor domain

Kazal_1aa 335–389UCSCKazal-type serine protease inhibitor domain

Kazal_2aa 411–461UCSCKazal-type serine protease inhibitor domain

Kazal_2aa 489–534UCSCKazal-type serine protease inhibitor domain

Gene Aliases

HGNC Name

agrin

HGNC Previous Symbol

AGRIN

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_198576.4

p.R740Q

c.2219G>A

Surrounding Variants

1 paper

NM_198576.4

p.R740*

c.2218C>T

2 papers

NM_198576.4

p.A745V

c.2234C>T

1 paper

NM_198576.4

p.A749S

c.2245G>T

1 paper

NM_198576.4

p.E730A

c.2189A>C

10 papers

NM_198576.4

p.E728V

c.2183A>T

1 paper

NM_198576.4

p.G752Splc

c.2254+3G>T

1 paper

NM_198576.4

p.G719S

c.2155G>A

1 paper

NM_198576.4

p.C718*

c.2154C>A

1 paper

NM_198576.4

p.S711fs

c.2131_2132fs

1 paper

NM_198576.4

p.S711delFs

c.2131_2132delAG

1 paper

NM_198576.4

p.D706A

c.2117A>C

1 paper

NM_198576.4

p.C703ins1

c.2107_2108insAGG