Varaico: Literature-Extracted Genetic Variants

AMHR2

170 papers

RefSeq Summary

This gene encodes the receptor for the anti-Mullerian hormone (AMH) which, in addition to testosterone, results in male sex differentiation. AMH and testosterone are produced in the testes by differen...

Pfam Domains

Activin_recpaa 38–123UCSCActivin types I and II receptor domain

Pkinaseaa 205–505UCSCProtein kinase domain

Gene Aliases

HGNC Name

anti-Mullerian hormone receptor type 2

HGNC Alias Symbols

MISR2; MISRII

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020547.3

p.P389fs

c.1165_1166fs

Surrounding Variants

1 paper

NM_020547.3

p.E390K

c.1168G>A

1 paper

NM_020547.3

p.A388_P389delFs

c.1164_1165delAC

1 paper

NM_020547.3

p.M387delFs

c.1161delG

1 paper

NM_020547.3

p.Q384*

c.1150C>T

2 papers

NM_020547.3

p.L396fs

c.1186_1187fs

1 paper

NM_020547.3

p.D397N

c.1189G>A

1 paper

NM_020547.3

p.D397H

c.1189G>C

1 paper

NM_020547.3

p.W401*

c.1202G>A

1 paper

NM_020547.3

p.W401*

c.1203G>A

1 paper

NM_020547.3

p.A404D

c.1211C>A

1 paper

NM_020547.3

p.L405delFs

c.1215delC

3 papers

NM_020547.3

p.R406*

c.1216C>T