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.E541D

c.1623G>C

Surrounding Variants

1 paper

NM_000479.5

p.E541D

c.1623G>T

2 papers

NM_000479.5

p.E542K

c.1624G>A

1 paper

NM_000479.5

p.E542Q

c.1624G>C

1 paper

NM_000479.5

p.E541Q

c.1621G>C

1 paper

NM_000479.5

p.E541_R543del3

c.1621_1628del9

1 paper

NM_000479.5

p.S538R

c.1614C>A

1 paper

NM_000479.5

p.S538R

c.1614C>G

1 paper

NM_000479.5

p.S538T

c.1613G>C

1 paper

NM_000479.5

p.S538R

c.1612A>C

1 paper

NM_000479.5

p.A546T

c.1636G>A

2 papers

NM_000479.5

p.A546E

c.1637C>A

1 paper

NM_000479.5

p.H547D

c.1639C>G