Varaico: Literature-Extracted Genetic Variants

Gene:NELFA
Variant:p.I29F

NELFA

22 papers

RefSeq Summary

This gene is expressed ubiquitously with higher levels in fetal than in adult tissues. It encodes a protein sharing 93% sequence identity with the mouse protein. Wolf-Hirschhorn syndrome (WHS) is a ma...

Pfam Domains

NELF-A_Naa 19–164UCSCNELF-A N-terminal domain

Gene Aliases

HGNC Name

negative elongation factor complex member A

HGNC Previous Symbol

WHSC2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005663.5
p.I29F
c.85A>T
Surrounding Variants
1 paper
NM_005663.5
p.L33R
c.98T>G
1 paper
NM_005663.5
p.R42delFs
c.124_125delCG
1 paper
NM_005663.5
p.M1insFs
c.3dupG
1 paper
NM_005663.5
p.M1insFs
c.2dupT
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