Varaico: Literature-Extracted Genetic Variants

AMH

332 papers

RefSeq Summary

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activat...

Pfam Domains

AMH_Naa 77–442UCSCAnti-Mullerian hormone, N terminal region

TGF_betaaa 461–559UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

anti-Mullerian hormone

HGNC Alias Names

Muellerian-inhibiting factor; Muellerian-inhibiting substance

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000479.5

p.V477fs

c.1429_1430fs

Surrounding Variants

8 papers

NM_000479.5

p.V477A

c.1430T>C

1 paper

NM_000479.5

p.L478F

c.1432C>T

1 paper

NM_000479.5

p.P480H

c.1439C>A

1 paper

NM_000479.5

p.E481A

c.1442A>C

1 paper

NM_000479.5

p.R472insFs

c.1415_1416ins4

2 papers

NM_000479.5

p.R472_A485del14

c.1414_1454del42

2 papers

NM_000479.5

p.Y483H

c.1447T>C

1 paper

NM_000479.5

p.A485T

c.1453G>A

4 papers

NM_000479.5

p.N486T

c.1457A>C

1 paper

NM_000479.5

p.N487_Q489del0

c.1459_1467del9

1 paper

NM_000479.5

p.L467V

c.1399C>G

1 paper

NM_000479.5

p.E466delFs

c.1398delG