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

1 paper

NM_000479.5

p.V138fs

c.412_413fs

Surrounding Variants

1 paper

NM_000479.5

p.T139S

c.415A>T

1 paper

NM_000479.5

p.W140_E141del1

c.419_421delGGG

5 papers

NM_000479.5

p.T143I

c.428C>T

1 paper

NM_000479.5

p.R147W

c.439A>T

5 papers

NM_000479.5

p.F148L

c.442T>C

1 paper

NM_000479.5

p.F148S

c.443T>C

5 papers

NM_000479.5

p.F148L

c.444C>A

5 papers

NM_000479.5

p.F148L

c.444C>G

2 papers

NM_000479.5

p.P151A

c.451C>G

11 papers

NM_000479.5

p.P151S

c.451C>T

1 paper

NM_000479.5

p.P152S

c.454C>T

2 papers

NM_000479.5

p.P158_A162delFs

c.472_485del14