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.T447I

c.1340C>T

Surrounding Variants

2 papers

NM_020547.3

p.P448R

c.1343C>G

1 paper

NM_020547.3

p.L444fs

c.1330_1331fs

1 paper

NM_020547.3

p.L444insFs

c.1330_1331insTA

9 papers

NM_020547.3

p.L444_E452del0

c.1330_1356del27

3 papers

NM_020547.3

p.L453del1

c.1357_1358delCTA

3 papers

NM_001164690.2

p.M439V

c.1315A>G

NM_020547.3

p.Y440C

c.1319A>G

1 paper

NM_020547.3

p.A439_A442del0

c.1317_1325del9

3 papers

NM_020547.3

p.V458L

c.1372G>C

3 papers

NM_020547.3

p.V458L

c.1372G>T

4 papers

NM_020547.3

p.V458A

c.1373T>C

1 paper

NM_020547.3

p.P435L

c.1304C>T

1 paper

NM_020547.3

p.P434S

c.1300C>T