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.D359_L363del0

c.1075_1089del15

Surrounding Variants

1 paper

NM_000479.5

p.T357I

c.1070C>T

1 paper

NM_000479.5

p.A355V

c.1064C>T

1 paper

NM_000479.5

p.P362A

c.1084C>G

4 papers

NM_000479.5

p.P362S

c.1084C>T

5 papers

NM_000479.5

p.P352S

c.1054C>T

1 paper

NM_000479.5

p.D365G

c.1094A>G

1 paper

NM_000479.5

p.D365D

c.1095C>T

2 papers

NM_000479.5

p.P366L

c.1097C>T

1 paper

NM_000479.5

p.L349L

c.1047G>A

1 paper

NM_000479.5

p.S368_A369insT

c.1102_1106ins3

1 paper

NM_000479.5

p.P370_T373del4

c.1108_1118del12

1 paper

NM_000479.5

p.L346L

c.1038G>A