Varaico: Literature-Extracted Genetic Variants

Gene:INHA
Variant:p.P235L

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
2 papers
NM_002191.4
p.P235L
c.704C>T
Surrounding Variants
1 paper
NM_002191.4
p.M237insFs
c.710dupT
1 paper
NM_002191.4
p.S233delins
c.697_699delinsGCG
1 paper
NM_002191.4
p.R231_S233del0
c.691_699del9
2 papers
NM_002191.4
p.G227A
c.680G>C
4 papers
NM_002191.4
p.G227R
c.679G>A
2 papers
NM_002191.4
p.G227R
c.679G>C
1 paper
NM_002191.4
p.G226R
c.676G>A
4 papers
NM_002191.4
p.S225R
c.675T>A
5 papers
NM_002191.4
p.S225R
c.675T>G
1 paper
NM_002191.4
p.A245D
c.734C>A
1 paper
NM_002191.4
p.S225N
c.674G>A
4 papers
NM_002191.4
p.S225R
c.673A>C
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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."