Varaico: Literature-Extracted Genetic Variants

Gene:INHA
Variant:p.L249L

INHA

175 papers

RefSeq Summary

This gene encodes a member of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate multiple peptide products, incl...

Pfam Domains

TGF_betaaa 261–365UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

inhibin subunit alpha

HGNC Previous Name

inhibin, alpha

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002191.4
p.L249L
c.747G>A
Surrounding Variants
1 paper
NM_002191.4
p.R247R
c.741C>T
1 paper
NM_002191.4
p.P252H
c.755C>A
1 paper
NM_002191.4
p.P253L
c.758C>T
1 paper
NM_002191.4
p.A245D
c.734C>A
1 paper
NM_002191.4
p.E254*
c.760G>T
55 papers
NM_002191.4
p.A257T
c.769G>A
1 paper
NM_002191.4
p.A257P
c.769G>C
1 paper
NM_002191.4
p.H259_N261delFs
c.776_782del7
1 paper
NM_002191.4
p.H259Q
c.777T>A
1 paper
NM_002191.4
p.N261D
c.781A>G
1 paper
NM_002191.4
p.M237insFs
c.710dupT
1 paper
NM_002191.4
p.C262C
c.786C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."